dbVar is NCBI's database of human genomic Structural Variation — large variants >50 bp including insertions, deletions, duplications, inversions, mobile elements, translocations, and complex variants.

The database of Genotypes and Phenotypes (dbGaP) was developed to archive and distribute the data and results from studies that have investigated the interaction of genotype and phenotype in Humans.

A free, centralized voluntary registry of comprehensive genetic test information covering clinical and research tests for Mendelian disorders and drug responses including multigenic, array-based, biochemical, cytogenetic, and molecular tests.

This genetic variation services interconvert and transform short genetic variants between HGVS expressions, VCF format, and the new SPDI (Sequence Position Deletion Insertion) format, based on alignment datasets used by ClinVar and dbSNP. NOTE: This service is still in beta testing mode

The Sequence Read Archive (SRA) stores sequencing data from the next generation of sequencing platforms including Roche 454 GS System®, Illumina Genome Analyzer®, Life Technologies AB SOLiD System®, Helicos Biosciences Heliscope®, Complete Genomics®, and Pacific Biosciences SMRT®.

A database providing information on the structure of assembled genomes, assembly names and other meta-data, statistical reports, and links to genomic sequence data.

Genomes FTP site FAQ at https://www.ncbi.nlm.nih.gov/genome/doc/ftpfaq/

The Consensus CDS (CCDS) project is a collaborative effort to identify a core set of human and mouse protein coding regions that are consistently annotated and of high quality. The long term goal is to support convergence towards a standard set of gene annotations.

Available information includes: Announcements, Overview, Access and Availability, Collaborators, CCDS Identifiers and Tracking, Process Flow and Quality Testing, Publications.

Initial results from the Consensus CDS project are now available from the participants' genome browser Web sites. In addition, CCDS identifiers are indicated on the relevant NCBI RefSeq and Entrez Gene records. CCDS reports can be accessed by following provided links, or by directly querying the underlying database using the query interface provided at the top of the home page. The CCDS dataset is also available for anonymous FTP.

NIH Genetic sequence database, an annotated collection of all publicly available DNA sequences.

MedGen is NCBI's portal to information about conditions and phenotypes related to Medical Genetics. Terms from the NIH Genetic Testing Registry (GTR), UMLS, HPO, Orphanet, ClinVar and other sources are aggregated into concepts, each of which is assigned a unique identifier and a preferred name and symbol. The core content of the record may include names, identifiers used by other databases, mode of inheritance, clinical features, and map location of the loci affecting the disorder. The concept identifier (CUI) is used to aggregate information about that concept, similar to the way NCBI Gene serves as a gateway to gene-related information.

MedGen provides links to such resources as: Genetic tests registered in the NIH Genetic Testing Registry (GTR), GeneReviews, ClinVar, OMIM, Related genes, Disorders with similar clinical features, Medical and research literature, Practice guidelines, Consumer resources, Ontologies such as HPO and ORDO.

Links to the GTR, GeneReviews, and Practice Guidelines are based on curation by NCBI staff. Other data feeds are automated, but reviewed by NCBI staff and informed by feedback from the community.

Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes.