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Items: 1 to 20 of 133

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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
    nsv7056014inversion1nstd229human GRCh38 chr1: 90,714,350-90,718,290 , GRCh37.p13 chr1: 91,179,907-91,183,847 BARHL2
    nsv7050257inversion1nstd229human GRCh38 chr1: 90,043,458-91,855,366 , GRCh37.p13 chr1: 90,509,016-92,320,923 SNORD3G, LINC01763, 24 more genes
    nsv7045277inversion1nstd229human GRCh38 chr1: 89,219,136-91,269,986 , GRCh37.p13 chr1: 89,684,819-91,735,543 LOC105378847, CAPNS1P1, 33 more genes
    nsv7043892inversion1nstd229human GRCh38 chr1: 90,652,907-91,933,179 , GRCh37.p13 chr1: 91,118,464-92,398,736 ZNF644, RPL5P6, 17 more genes
    nsv6656815copy number variation1nstd229human GRCh38 chr1: 90,672,298-90,756,152 , GRCh37.p13 chr1: 91,137,855-91,221,709 BARHL2
    nsv6542421inversion1nstd223human GRCh38 chr1: 85,951,963-92,104,665 , GRCh37.p13 chr1: 86,417,646-92,570,222 LOC105378844, LINC01773, 104 more genes
    nsv6328402copy number variation1nstd223human GRCh38 chr1: 90,697,801-90,745,900 , GRCh37.p13 chr1: 91,163,358-91,211,457 BARHL2
    nsv6313574copy number variation1nstd102humanPathogenic GRCh37 chr1: 68,180,293-92,731,957 , GRCh38.p12 chr1: 67,714,610-92,266,400 RNA5SP51, ADGRL4, 315 more genes
    nsv6133887copy number variation1nstd213human GRCh37 chr1: 91,040,000-91,660,001 , GRCh38.p12 chr1: 90,574,443-91,194,444 ZNF644, BARHL2, 6 more genes
    nsv6133886copy number variation1nstd213human GRCh37 chr1: 90,710,000-91,930,001 , GRCh38.p12 chr1: 90,244,442-91,464,444 FEN1P1, LINC02787, 15 more genes
    nsv5563291sequence alteration1nstd206human GRCh38 chr1: 90,224,257-90,756,135 , GRCh37.p13 chr1: 90,689,815-91,221,692 BARHL2, LOC105378849, 6 more genes
    nsv5419979copy number variation1nstd206human GRCh38 chr1: 90,717,497-90,717,987 , GRCh37.p13 chr1: 91,183,054-91,183,544 BARHL2
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4784172copy number variation1nstd200human GRCh37 chr1: 91,183,054-91,183,544 , GRCh38.p12 chr1: 90,717,497-90,717,987 BARHL2
    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
    nsv4674092copy number variation1nstd102humanUncertain significance GRCh37 chr1: 90,656,649-91,356,561 , GRCh38.p12 chr1: 90,191,091-90,891,004 PHKA1P1, LOC107985088, 10 more genes
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