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Items: 1 to 20 of 368

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv5873722copy number variation1nstd209human GRCh38 chrX: 19,356,682-19,356,817 , GRCh37.p13 chrX: 19,374,800-19,374,935 PDHA1
    nsv5871338copy number variation1nstd209human GRCh38 chrX: 19,359,733-19,359,833 , GRCh37.p13 chrX: 19,377,851-19,377,951 PDHA1, MAP3K15
    nsv5666568copy number variation1nstd207human GRCh38 chrX: 19,356,682-19,356,817 , GRCh37.p13 chrX: 19,374,800-19,374,935 PDHA1
    nsv5432468copy number variation1nstd206human GRCh38 chrX: 19,357,989-19,358,040 , GRCh37.p13 chrX: 19,376,107-19,376,158 PDHA1
    nsv5424004copy number variation1nstd206human GRCh38 chrX: 19,345,383-19,345,668 , GRCh37.p13 chrX: 19,363,501-19,363,786 PDHA1
    nsv5423729copy number variation1nstd206human GRCh38 chrX: 19,356,682-19,356,818 , GRCh37.p13 chrX: 19,374,800-19,374,936 PDHA1
    nsv5418344copy number variation1nstd206human GRCh38 chrX: 18,849,171-19,630,885 , GRCh37.p13 chrX: 18,867,289-19,649,003 SH3KBP1, PDHA1, 8 more genes
    nsv5383951copy number variation2nstd186human GRCh37 chrX: 19,374,800-19,374,936 , GRCh38.p12 chrX: 19,356,682-19,356,818 PDHA1
    nsv5381747copy number variation5nstd102humanUncertain significance GRCh37 chrX: 17,393,881-20,284,750 , GRCh38.p12 chrX: 17,375,758-20,266,632 TMSB10P2, BLOC1S6P1, 37 more genes
    nsv5200361copy number variation1nstd102humanPathogenic GRCh37 chrX: 19,183,657-20,215,858 , GRCh38.p12 chrX: 19,165,539-20,197,740 EIF5P2, SH3KBP1, 10 more genes
    nsv5193711mobile element insertion1nstd203human GRCh38 chrX: 19,353,925-19,353,941 , GRCh37.p13 chrX: 19,372,043-19,372,059 PDHA1
    nsv5059968copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-56,457,794 , GRCh38.p12 chrX: 251,879-56,431,361 PAGE3, METTL15P3, 785 more genes
    nsv4905236copy number variation1nstd200human GRCh38 chrX: 19,058,846-19,652,091 , GRCh37.p13 chrX: 19,076,964-19,670,209 ADGRG2, PDHA1, 4 more genes
    nsv4779226copy number variation1nstd200human GRCh37 chrX: 19,374,800-19,374,936 , GRCh38.p12 chrX: 19,356,682-19,356,818 PDHA1
    nsv4769248copy number variation1nstd201human GRCh37 chrX: 168,546-21,870,371 , GRCh38.p12 chrX: 251,879-21,852,253 , AMELX, 248 more genes
    nsv4728486copy number variation1nstd102humanPathogenic GRCh37 chrX: 219,609-55,466,476 , GRCh38.p12 chrX: 302,942-55,440,043 CDK16, WASF4P, 772 more genes
    nsv4728320copy number variation1nstd102humanUncertain significance GRCh37 chrX: 19,212,948-19,369,492 , GRCh38.p12 chrX: 19,194,830-19,351,374 PDHA1
    nsv4728284copy number variation1nstd102humanUncertain significance GRCh37 chrX: 18,582,617-19,417,295 , GRCh38.p12 chrX: 18,564,497-19,399,177 MAP3K15, ADGRG2, 12 more genes
    nsv4683242copy number variation2nstd102humanPathogenic GRCh37 chrX: 18,660,114-19,377,781 , GRCh38.p12 chrX: 18,641,994-19,359,663 RS1, RN7SL48P, 12 more genes
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