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Items: 1 to 20 of 186

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098872copy number variation1nstd102humanUncertain significance GRCh37 chr2: 73,716,761-75,347,894 , GRCh38.p12 chr2: 73,489,634-75,120,768 RTKN, PCGF1, 61 more genes
    nsv7096916copy number variation1nstd102humanPathogenic GRCh37 chr2: 74,087,159-74,087,298 , GRCh38.p12 chr2: 73,860,032-73,860,171 STAMBP
    nsv7096907copy number variation2nstd102humanPathogenic GRCh37 chr2: 72,359,356-74,779,761 , GRCh38.p12 chr2: 72,132,227-74,552,634 RNU6-111P, LOC105374800, 71 more genes
    nsv7096902copy number variation3nstd102humanPathogenic GRCh37 chr2: 71,004,499-74,779,761 , GRCh38.p12 chr2: 70,777,367-74,552,634 TAF13P2, LOC107985897, 100 more genes
    nsv7096520copy number variation1nstd102humanUncertain significance GRCh37 chr2: 69,240,632-74,779,761 , GRCh38.p12 chr2: 69,013,500-74,552,634 LOC112268419, DQX1, 140 more genes
    nsv6671493copy number variation1nstd229human GRCh38 chr2: 73,846,001-73,849,600 , GRCh37.p13 chr2: 74,073,128-74,076,727 STAMBP, LOC112268419
    nsv6669620copy number variation1nstd229human GRCh38 chr2: 73,846,681-73,851,154 , GRCh37.p13 chr2: 74,073,808-74,078,281 STAMBP, LOC112268419
    nsv6667177copy number variation1nstd229human GRCh38 chr2: 73,847,510-73,847,872 , GRCh37.p13 chr2: 74,074,637-74,074,999 STAMBP, LOC112268419
    nsv6662557copy number variation1nstd229human GRCh38 chr2: 73,843,710-73,974,902 , GRCh37.p13 chr2: 74,070,837-74,202,029 STAMBP, LOC100420774, 5 more genes
    nsv6660822copy number variation1nstd229human GRCh38 chr2: 73,861,591-73,868,650 , GRCh37.p13 chr2: 74,088,718-74,095,777 STAMBP
    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
    nsv6628141copy number variation1nstd224human GRCh37 chr2: 74,058,095-75,146,159 , GRCh38.p12 chr2: 73,830,968-74,919,032 AUP1, DCTN1, 48 more genes
    nsv6550128inversion1nstd223human GRCh38 chr2: 73,861,546-73,862,011 , GRCh37.p13 chr2: 74,088,673-74,089,138 STAMBP
    nsv6545800inversion1nstd223human GRCh38 chr2: 73,845,634-73,846,362 , GRCh37.p13 chr2: 74,072,761-74,073,489 STAMBP, LOC112268419
    nsv6338933copy number variation1nstd223human GRCh38 chr2: 73,832,401-73,834,700 , GRCh37.p13 chr2: 74,059,528-74,061,827 STAMBP
    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
    nsv6311602copy number variation1nstd102humanPathogenic GRCh37 chr2: 74,089,310-74,089,386 , GRCh38.p12 chr2: 73,862,183-73,862,259 STAMBP
    nsv6293580mobile element insertion1nstd186human GRCh37 chr2: 74,086,190-74,086,241 , GRCh38.p12 chr2: 73,859,063-73,859,114 STAMBP
    nsv6134545copy number variation2nstd213human GRCh37 chr2: 47,990,000-75,070,001 , GRCh38.p12 chr2: 47,762,861-74,842,874 ACTG2, ACYP2, 438 more genes
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