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Items: 1 to 20 of 179

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6636315copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 95,341,388-100,340,514 , GRCh38.p12 chr2: 94,675,663-99,724,052 ADRA2B, ATP5F1BP1, 130 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6628239copy number variation1nstd224human GRCh37 chr2: 95,444,917-95,715,335 , GRCh38.p12 chr2: 94,779,172-95,049,590 MAL, RPS24P6, 9 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6314468complex chromosomal rearrangement3nstd102humanUncertain significance GRCh38.p12 chr19: 11,463,423-11,463,423 , GRCh38.p12 chr19: 11,463,440-11,463,440 , GRCh37 chr19: 11,574,238-11,574,238 , GRCh37 chr19: 11,574,255-11,574,255 , GRCh38.p12 chr2: 94,876,916-94,876,916 , GRCh38.p12 chr2: 94,876,933-94,876,933 , GRCh38.p12 chr2: 94,877,044-94,877,044 , GRCh38.p12 chr2: 94,877,065-94,877,065 , GRCh37 chr2: 95,542,661-95,542,661 , GRCh37 chr2: 95,542,678-95,542,678 , GRCh37 chr2: 95,542,789-95,542,789 , GRCh37 chr2: 95,542,810-95,542,810 ELAVL3, TEKT4, 1 more genes
    nsv6313735copy number variation1nstd102humanUncertain significance GRCh37 chr2: 95,341,387-96,735,978 , GRCh38.p12 chr2: 94,675,662-96,070,230 TRIM43, SNX18P14, 48 more genes
    nsv6291149copy number variation1nstd102humanUncertain significance GRCh37 chr2: 95,341,686-96,193,214 , GRCh38.p12 chr2: 94,675,961-95,527,466 CYP4F32P, UBTFL5, 32 more genes
    nsv6134469copy number variation1nstd213human GRCh37 chr2: 95,470,000-95,680,001 , GRCh38.p12 chr2: 94,804,255-95,014,256 TEKT4, LOC442028, 7 more genes
    nsv5868064copy number variation1nstd209human GRCh38 chr2: 94,690,991-95,007,035 , GRCh37.p13 chr2: 95,356,717-95,618,108 , GRCh37.p13 chr2|NW_003571032.1: 128,567-389,939 RPS24P6, SNX18P14, 14 more genes
    nsv5612852insertion1nstd207human GRCh38 chr2: 94,872,584-94,872,584 , GRCh37.p13 chr2|NW_003571032.1: 310,160-310,160 , GRCh37.p13 chr2: 95,538,329-95,538,329 LOC442028, TEKT4
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv4908093copy number variation1nstd200human GRCh38 chr2: 94,870,180-94,871,229 , GRCh37.p13 chr2|NW_003571032.1: 307,756-308,805 , GRCh37.p13 chr2: 95,535,925-95,536,974 LOC442028, TEKT4
    nsv4894807copy number variation1nstd200human GRCh37.p13 chr2|NW_003571032.1: 226,270-375,624 , GRCh38 chr2: 94,788,694-94,938,048 , GRCh37.p13 chr2: 95,454,439-95,603,793 TEKT4, ANKRD20A8P, 5 more genes
    nsv4766632inversion1nstd199human GRCh37 chr2: 87,997,505-112,010,501 , GRCh38.p12 chr1: 125,085,511-144,884,066 , GRCh38.p12 chr2: 87,697,986-111,252,924 , GRCh38.p12 chr9: 40,649,907-63,450,751 , GRCh38.p12 chr9: 40,649,751-63,450,622 , ADRA2B, 706 more genes
    nsv4752571inversion1nstd199human GRCh37 chr2: 87,550,795-112,295,517 , GRCh38.p12 chr1: 125,085,511-144,884,066 , GRCh38.p12 chr2: 87,323,672-111,537,940 , GRCh38.p12 chr9: 40,649,907-63,450,751 , GRCh38.p12 chr9: 40,649,751-63,450,622 , ADRA2B, 723 more genes
    nsv4743379copy number variation1nstd199human GRCh37 chr2: 88,481,090-124,440,189 , GRCh38.p12 chr9: 40,649,751-63,450,622 , GRCh38.p12 chr9: 40,649,907-63,450,751 , GRCh38.p12 chr1: 125,085,511-144,884,066 , GRCh38.p12 chr2: 88,181,571-123,682,613 , EIF2AK3, 861 more genes
    nsv4665342copy number variation1nstd186human GRCh37 chr2: 95,539,128-95,542,377 , GRCh38.p12 chr2: 94,873,383-94,876,632 TEKT4, LOC442028
    nsv4665264copy number variation1nstd186human GRCh37 chr2: 95,529,050-95,546,564 , GRCh38.p12 chr2: 94,863,305-94,880,819 TEKT4, LOC442028, 1 more genes
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