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Items: 1 to 20 of 117

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099215copy number variation1nstd231human GRCh38.p12 chr1: 84,991,383-97,594,649 , GRCh37 chr1: 85,457,066-98,060,205 ABCA4, BRDT, 220 more genes
    nsv7095872copy number variation1nstd102humanUncertain significance GRCh37 chr1: 92,941,586-93,307,422 , GRCh38.p12 chr1: 92,476,029-92,841,865 SNORD21, DIPK1A, 9 more genes
    nsv7046576inversion1nstd229human GRCh38 chr1: 92,275,609-93,139,144 , GRCh37.p13 chr1: 92,741,166-93,604,701 GLMN, CCNJP2, 18 more genes
    nsv6656636copy number variation1nstd229human GRCh38 chr1: 92,838,901-92,840,500 , GRCh37.p13 chr1: 93,304,458-93,306,057 RPL5, DIPK1A, 1 more genes
    nsv6334739copy number variation1nstd223human GRCh38 chr1: 91,095,691-93,048,861 , GRCh37.p13 chr1: 91,561,248-93,514,418 LOC107985417, BRDT, 38 more genes
    nsv6313881copy number variation1nstd102humanPathogenic GRCh37 chr1: 92,626,657-93,345,442 , GRCh38.p12 chr1: 92,161,100-92,879,885 LOC100419803, RNU4-59P, 16 more genes
    nsv6133888copy number variation1nstd213human GRCh37 chr1: 93,020,000-94,900,001 , GRCh38.p12 chr1: 92,554,443-94,434,445 ABCA4, DR1, 47 more genes
    nsv5673256copy number variation1nstd102humanPathogenic GRCh37 chr1: 93,297,672-93,307,422 , GRCh38.p12 chr1: 92,832,115-92,841,865 DIPK1A, SNORA66, 2 more genes
    nsv5381303copy number variation1nstd102humanUncertain significance GRCh37 chr1: 93,306,098-93,307,422 , GRCh38.p12 chr1: 92,840,541-92,841,865 RPL5, SNORA66, 1 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4768351copy number variation1nstd102humanPathogenic GRCh37 chr1: 92,405,898-94,018,197 , GRCh38.p12 chr1: 91,940,341-93,552,640 MND1P1, RN7SKP123, 39 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4063604copy number variation1nstd166human GRCh37.p13 chr1: 93,305,583-93,306,407 , GRCh38.p12 chr1: 92,840,026-92,840,850 RPL5, SNORA66, 1 more genes
    nsv4059555copy number variation1nstd166human GRCh37.p13 chr1: 93,304,666-93,304,772 , GRCh38.p12 chr1: 92,839,109-92,839,215 SNORA66, DIPK1A, 1 more genes
    nsv3899032copy number variation1nstd102humanPathogenic NCBI36 chr1: 92,729,074-93,745,436 , GRCh38 chr1: 92,490,929-93,507,291 , GRCh37 chr1: 92,956,486-93,972,848 EVI5, LOC107985521, 24 more genes
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