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Items: 1 to 20 of 95

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099193copy number variation1nstd231human GRCh38.p12 chr1: 32,456,017-38,905,781 , GRCh37 chr1: 32,921,618-39,371,453 AK2, COL8A2, 151 more genes
    nsv7046918inversion1nstd229human GRCh38 chr1: 34,689,928-38,980,899 , GRCh37.p13 chr1: 35,155,529-39,446,571 LOC105378647, NCDN, 112 more genes
    nsv7046389inversion1nstd229human GRCh38 chr1: 31,492,639-36,569,102 , GRCh37.p13 chr1: 32,017,064-37,034,703 LOC105378642, TMEM35B, 127 more genes
    nsv6649187copy number variation1nstd229human GRCh38 chr1: 34,760,501-34,765,000 , GRCh37.p13 chr1: 35,226,102-35,230,601 GJB4, LOC105378642
    nsv6648536copy number variation1nstd229human GRCh38 chr1: 34,762,043-34,784,734 , GRCh37.p13 chr1: 35,227,644-35,250,335 LOC105378642, GJB4, 1 more genes
    nsv6636592copy number variation1nstd102humanPathogenic GRCh37 chr1: 35,104,233-37,357,913 , GRCh38.p12 chr1: 34,638,632-36,892,312 EFCAB14P1, SNORA63C, 56 more genes
    nsv6317614copy number variation1nstd223human GRCh38 chr1: 34,559,001-35,179,400 , GRCh37.p13 chr1: 35,024,602-35,645,001 GPR199P, MIR552, 15 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6133869copy number variation1nstd213human GRCh37 chr1: 33,400,000-36,950,001 , GRCh38.p12 chr1: 32,934,399-36,484,400 AK2, COL8A2, 77 more genes
    nsv4895912copy number variation1nstd200human GRCh38 chr1: 34,760,569-34,771,687 , GRCh37.p13 chr1: 35,226,170-35,237,288 GJB4, LOC105378642
    nsv4773027copy number variation1nstd200human GRCh37 chr1: 35,226,170-35,237,288 , GRCh38.p12 chr1: 34,760,569-34,771,687 LOC105378642, GJB4
    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
    nsv4581643copy number variation1nstd183human GRCh37 chr1: 35,026,862-35,307,679 , GRCh38.p12 chr1: 34,561,261-34,842,078 GJA4, GJB3, 5 more genes
    nsv4450314copy number variation1nstd102humanUncertain significance GRCh37 chr1: 34,915,050-36,163,162 , GRCh38.p12 chr1: 34,449,449-35,697,561 LOC105378644, RNY5P1, 27 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
    nsv4346788copy number variation1nstd102humanPathogenic GRCh37 chr1: 32,859,415-36,454,915 , GRCh38.p12 chr1: 32,393,814-35,989,314 LOC100419802, RPL5P4, 75 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
    nsv3963066copy number variation1nstd168human GRCh38 chr1: 34,744,460-34,764,668 , GRCh37.p13 chr1: 35,210,061-35,230,269 LOC105378642, GJB5, 1 more genes
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