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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7056697inversion1nstd229human GRCh38 chr2: 101,000,066-101,295,556 , GRCh37.p13 chr2: 101,616,528-101,912,018 LOC100420429, LOC105373511, 8 more genes
    nsv6695770copy number variation1nstd229human GRCh38 chr2: 101,102,526-102,065,468 , GRCh37.p13 chr2: 101,718,988-102,681,928 LOC107985789, PRCPP1, 17 more genes
    nsv6689448copy number variation1nstd229human GRCh38 chr2: 101,155,101-101,158,300 , GRCh37.p13 chr2: 101,771,563-101,774,762 TBC1D8, TBC1D8-AS1
    nsv6689204copy number variation1nstd229human GRCh38 chr2: 101,045,957-101,361,205 , GRCh37.p13 chr2: 101,662,419-101,977,667 TBC1D8-AS1, LOC105373511, 8 more genes
    nsv6686934copy number variation1nstd229human GRCh38 chr2: 101,155,001-101,176,000 , GRCh37.p13 chr2: 101,771,463-101,792,462 TBC1D8-AS1, TBC1D8
    nsv6682372copy number variation1nstd229human GRCh38 chr2: 101,019,001-101,325,000 , GRCh37.p13 chr2: 101,635,463-101,941,462 BBIP1P1, LOC105373512, 9 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6538894inversion1nstd223human GRCh38 chr2: 101,155,907-101,156,531 , GRCh37.p13 chr2: 101,772,369-101,772,993 TBC1D8-AS1, TBC1D8
    nsv6347548copy number variation1nstd223human GRCh38 chr2: 101,150,401-101,152,600 , GRCh37.p13 chr2: 101,766,863-101,769,062 TBC1D8-AS1, TBC1D8
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6291008copy number variation1nstd102humanUncertain significance GRCh37 chr2: 101,699,537-106,383,710 , GRCh38.p12 chr2: 101,083,075-105,767,253 C2orf49, LINC01870, 71 more genes
    nsv6134605copy number variation1nstd213human GRCh37 chr2: 101,700,000-103,280,001 , GRCh38.p12 chr2: 101,083,538-102,663,542 IL1R1, SLC9A2, 27 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5442341copy number variation1nstd206human GRCh38 chr2: 101,144,069-101,150,109 , GRCh37.p13 chr2: 101,760,531-101,766,571 TBC1D8-AS1, TBC1D8
    nsv5281322copy number variation1nstd204human GRCh38.p13 chr2: 100,864,060-101,514,976 , GRCh37.p13 chr2: 101,480,522-102,131,438 LINC01870, LOC105373511, 17 more genes
    nsv5217676copy number variation1nstd204human GRCh38.p13 chr2: 100,959,101-101,514,900 , GRCh37.p13 chr2: 101,575,563-102,131,362 RNF149, NPAS2, 17 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv4894856copy number variation1nstd200human GRCh38 chr2: 100,864,090-101,514,954 , GRCh37.p13 chr2: 101,480,552-102,131,416 CREG2, LOC105373510, 17 more genes
    nsv4781672copy number variation1nstd200human GRCh37 chr2: 101,480,552-102,131,416 , GRCh38.p12 chr2: 100,864,090-101,514,954 LOC105373512, BBIP1P1, 17 more genes
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