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Items: 1 to 20 of 278

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099248copy number variation1nstd231human GRCh38.p12 chr1: 172,685,012-173,856,229 , GRCh37 chr1: 172,654,152-173,825,367 TNFSF4, TNFSF18, 19 more genes
    nsv7055337inversion1nstd229human GRCh38 chr1: 173,747,039-173,747,051 , GRCh37.p13 chr1: 173,716,178-173,716,190 KLHL20
    nsv6644886copy number variation1nstd229human GRCh38 chr1: 173,723,901-173,741,200 , GRCh37.p13 chr1: 173,693,040-173,710,339 RPS27P7, KLHL20
    nsv6644717copy number variation1nstd229human GRCh38 chr1: 172,496,006-174,441,202 , GRCh37.p13 chr1: 172,465,146-174,410,340 RABGAP1L-DT, LOC100506023, 46 more genes
    nsv6644380copy number variation1nstd229human GRCh38 chr1: 173,749,801-173,758,400 , GRCh37.p13 chr1: 173,718,940-173,727,539 KLHL20
    nsv6552309inversion1nstd223human GRCh38 chr1: 173,754,412-173,755,083 , GRCh37.p13 chr1: 173,723,551-173,724,222 KLHL20
    nsv6551472inversion1nstd223human GRCh38 chr1: 173,735,324-173,735,985 , GRCh37.p13 chr1: 173,704,463-173,705,124 KLHL20
    nsv6551387inversion1nstd223human GRCh38 chr1: 173,735,324-173,735,940 , GRCh37.p13 chr1: 173,704,463-173,705,079 KLHL20
    nsv6547707inversion1nstd223human GRCh38 chr1: 173,731,976-173,733,317 , GRCh37.p13 chr1: 173,701,115-173,702,456 KLHL20
    nsv6330736copy number variation1nstd223human GRCh38 chr1: 173,746,430-173,747,068 , GRCh37.p13 chr1: 173,715,569-173,716,207 KLHL20
    nsv6327534copy number variation1nstd223human GRCh38 chr1: 173,746,601-173,748,200 , GRCh37.p13 chr1: 173,715,740-173,717,339 KLHL20
    nsv6325466copy number variation1nstd223human GRCh38 chr1: 173,742,901-173,744,300 , GRCh37.p13 chr1: 173,712,040-173,713,439 KLHL20
    nsv6315738copy number variation1nstd223human GRCh38 chr1: 173,746,169-173,746,427 , GRCh37.p13 chr1: 173,715,308-173,715,566 KLHL20
    nsv6313831copy number variation1nstd102humanUncertain significance GRCh37 chr1: 173,750,496-174,538,509 , GRCh38.p12 chr1: 173,781,358-174,569,371 SNORD47, SNORD76, 27 more genes
    nsv6313519copy number variation1nstd102humanPathogenic GRCh37 chr1: 171,881,608-175,899,893 , GRCh38.p12 chr1: 171,912,468-175,930,757 RNU6-693P, PIGC, 73 more genes
    nsv6310765copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr1: 171,605,065-173,962,123 , GRCh38.p12 chr1: 171,635,925-173,992,985 RNU6-157P, SNORD47, 60 more genes
    nsv6289986copy number variation1nstd102humanPathogenic GRCh38 chr1: 173,501,975-175,305,010 , GRCh37.p13 chr1: 173,471,114-175,274,146 GAS5-AS1, ENTR1P2, 44 more genes
    nsv6289891copy number variation1nstd102humanPathogenic GRCh38 chr1: 172,987,296-174,843,232 , GRCh37.p13 chr1: 172,956,436-174,812,370 LOC100302291, SNORD75, 41 more genes
    nsv6289872copy number variation1nstd102humanPathogenic GRCh38 chr1: 173,686,375-176,083,118 , GRCh37.p13 chr1: 173,655,514-176,052,254 ENTR1P2, GAS5-AS1, 49 more genes
    nsv6245614mobile element insertion1nstd215human GRCh38 chr1: 173,770,291-173,770,291 , GRCh37.p13 chr1: 173,739,430-173,739,430 KLHL20
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