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Items: 1 to 20 of 29

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3876500copy number variation1nstd102humanBenign GRCh37 chr2: 128,366,272-128,403,530 , GRCh38.p12 chr2: 127,608,697-127,645,955 MYO7B, LIMS2, 2 more genes
    nsv3877900copy number variation1nstd102humanBenign GRCh37 chr2: 128,368,235-128,405,920 , GRCh38.p12 chr2: 127,610,660-127,648,345 MYO7B, LIMS2, 2 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 MYO7B, DAZAP2P1, 2991 more genes
    nsv6290867copy number variation1nstd102humanPathogenic GRCh37 chr2: 122,699,106-143,799,629 , GRCh38.p12 chr2: 121,941,530-143,042,060 MYO7B, RNU6-675P, 300 more genes
    nsv3876229copy number variation1nstd102humanPathogenic GRCh37 chr2: 120,571,363-141,627,287 , GRCh38.p12 chr2: 119,813,787-140,869,718 MYO7B, MIR9986, 320 more genes
    nsv3897428copy number variation1nstd102humanPathogenic GRCh38 chr2: 123,445,762-140,592,538 , NCBI36 chr2: 123,919,808-141,066,577 , GRCh37 chr2: 124,203,338-141,350,107 MYO7B, ARHGAP42P2, 278 more genes
    nsv3894414copy number variation1nstd102humanPathogenic GRCh37 chr2: 118,843,900-135,722,308 , GRCh38 chr2: 118,086,324-134,964,738 , NCBI36 chr2: 118,560,370-135,438,778 MYO7B, RHOQP2, 287 more genes
    nsv3892279copy number variation1nstd102humanPathogenic NCBI36 chr2: 115,776,113-129,545,173 , GRCh37 chr2: 116,059,643-129,828,703 , GRCh38 chr2: 115,302,067-129,071,130 MYO7B, MAP3K2, 144 more genes
    nsv3907989copy number variation1nstd102humanPathogenic GRCh38 chr2: 121,824,798-128,870,804 , GRCh37 chr2: 122,582,374-129,628,378 , NCBI36 chr2: 122,298,844-129,344,848 MYO7B, AMMECR1L, 69 more genes
    nsv3899901copy number variation1nstd102humanPathogenic GRCh37 chr2: 123,081,919-129,129,278 , NCBI36 chr2: 122,798,389-128,845,748 , GRCh38 chr2: 122,324,343-128,371,704 MYO7B, TEX51, 63 more genes
    nsv3898212copy number variation1nstd102humanPathogenic NCBI36 chr2: 123,644,035-128,934,119 , GRCh38 chr2: 123,169,989-128,460,075 , GRCh37 chr2: 123,927,565-129,217,649 MYO7B, RNA5SP103, 59 more genes
    nsv7095853copy number variation1nstd102humanPathogenic GRCh37 chr2: 127,451,420-129,076,137 , GRCh38.p12 chr2: 126,693,844-128,318,563 MYO7B, SRMP3, 41 more genes
    nsv7096197copy number variation1nstd102humanPathogenic GRCh37 chr2: 127,806,102-129,076,137 , GRCh38.p12 chr2: 127,048,526-128,318,563 MYO7B, IWS1, 35 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 MYO7B, LOC112268439, 3737 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 MYO7B, IGKV2OR2-10, 3737 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 MYO7B, RNU6-674P, 3735 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 MYO7B, MTND2P22, 3724 more genes
    nsv6291353copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036 MYO7B, LINC01120, 490 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MYO7B, MED15P9, 474 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 MYO7B, ACTG2, 1713 more genes
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