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Items: 1 to 20 of 292

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6636315copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 95,341,388-100,340,514 , GRCh38.p12 chr2: 94,675,663-99,724,052 ADRA2B, ATP5F1BP1, 130 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
    nsv6628239copy number variation1nstd224human GRCh37 chr2: 95,444,917-95,715,335 , GRCh38.p12 chr2: 94,779,172-95,049,590 MAL, RPS24P6, 9 more genes
    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
    nsv6313735copy number variation1nstd102humanUncertain significance GRCh37 chr2: 95,341,387-96,735,978 , GRCh38.p12 chr2: 94,675,662-96,070,230 TRIM43, SNX18P14, 48 more genes
    nsv6291149copy number variation1nstd102humanUncertain significance GRCh37 chr2: 95,341,686-96,193,214 , GRCh38.p12 chr2: 94,675,961-95,527,466 CYP4F32P, UBTFL5, 32 more genes
    nsv6134469copy number variation1nstd213human GRCh37 chr2: 95,470,000-95,680,001 , GRCh38.p12 chr2: 94,804,255-95,014,256 TEKT4, LOC442028, 7 more genes
    nsv6049414insertion1nstd212human GRCh38 chr2: 94,828,611-94,828,611 , GRCh37.p13 chr2|NW_003571032.1: 266,187-266,187 , GRCh37.p13 chr2: 95,494,356-95,494,356 ANKRD20A8P
    nsv6046966insertion1nstd212human GRCh38 chr2: 94,821,203-94,821,203 , GRCh37.p13 chr2|NW_003571032.1: 258,779-258,779 , GRCh37.p13 chr2: 95,486,948-95,486,948 ANKRD20A8P
    nsv5991130copy number variation1nstd212human GRCh38 chr2: 94,808,554-94,809,832 , GRCh37.p13 chr2: 95,474,299-95,475,577 , GRCh37.p13 chr2|NW_003571032.1: 246,130-247,408 ANKRD20A8P
    nsv5868064copy number variation1nstd209human GRCh38 chr2: 94,690,991-95,007,035 , GRCh37.p13 chr2: 95,356,717-95,618,108 , GRCh37.p13 chr2|NW_003571032.1: 128,567-389,939 RPS24P6, SNX18P14, 14 more genes
    nsv5725201mobile element insertion1nstd211human GRCh38 chr2: 94,797,699-94,797,699 , GRCh37.p13 chr2|NW_003571032.1: 235,275-235,275 , GRCh37.p13 chr2: 95,463,444-95,463,444 ANKRD20A8P
    nsv5675947mobile element insertion1nstd211human GRCh38 chr2: 94,822,439-94,822,439 , GRCh37.p13 chr2|NW_003571032.1: 260,015-260,015 , GRCh37.p13 chr2: 95,488,184-95,488,184 ANKRD20A8P
    nsv5614014insertion1nstd207human GRCh38 chr2: 94,771,316-94,771,316 , GRCh37.p13 chr2: 95,437,061-95,437,061 , GRCh37.p13 chr2|NW_003571032.1: 208,892-208,892 ANKRD20A8P
    nsv5609879insertion1nstd207human GRCh38 chr2: 94,763,653-94,763,653 , GRCh37.p13 chr2|NW_003571032.1: 201,229-201,229 , GRCh37.p13 chr2: 95,429,398-95,429,398 ANKRD20A8P
    nsv5576375copy number variation1nstd207human GRCh38 chr2: 94,763,497-94,763,650 , GRCh37.p13 chr2: 95,429,242-95,429,395 , GRCh37.p13 chr2|NW_003571032.1: 201,073-201,226 ANKRD20A8P
    nsv5571325copy number variation1nstd207human GRCh38 chr2: 94,782,711-94,783,068 , GRCh37.p13 chr2|NW_003571032.1: 220,287-220,644 , GRCh37.p13 chr2: 95,448,456-95,448,813 ANKRD20A8P
    nsv5570824copy number variation1nstd207human GRCh38 chr2: 94,809,381-94,809,438 , GRCh37.p13 chr2|NW_003571032.1: 246,957-247,014 , GRCh37.p13 chr2: 95,475,126-95,475,183 ANKRD20A8P
    nsv5569002copy number variation1nstd207human GRCh38 chr2: 94,803,516-94,803,590 , GRCh37.p13 chr2|NW_003571032.1: 241,092-241,166 , GRCh37.p13 chr2: 95,469,261-95,469,335 ANKRD20A8P
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