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Items: 1 to 20 of 323

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv3238586copy number variation1estd209human GRCh37 chrX: 30,237,824-30,237,825 , GRCh38.p12 chrX: 30,219,707-30,219,708 MAGEB2
    esv3238585copy number variation1estd209human GRCh37 chrX: 30,234,842-30,234,843 , GRCh38.p12 chrX: 30,216,725-30,216,726 MAGEB2
    esv2983261insertion1estd209human GRCh37 chrX: 30,236,236-30,236,236 , GRCh38.p12 chrX: 30,218,119-30,218,119 MAGEB2
    esv1606236insertion1estd22human NCBI36 chrX: 30,144,942-30,144,942 , GRCh37.p13 chrX: 30,235,021-30,235,021 , GRCh38.p12 chrX: 30,216,904-30,216,904 MAGEB2
    esv1465722insertion1estd22human NCBI36 chrX: 30,146,157-30,146,157 , GRCh37.p13 chrX: 30,236,236-30,236,236 , GRCh38.p12 chrX: 30,218,119-30,218,119 MAGEB2
    nsv423425insertion1nstd6human NCBI35 chrX: 29,995,894-29,995,894 , GRCh37.p13 chrX: 30,236,237-30,236,237 , GRCh38.p12 chrX: 30,218,120-30,218,120 MAGEB2
    nsv2666170short tandem repeat3nstd128human GRCh37 chrX: 30,237,825-30,237,835 , GRCh38.p12 chrX: 30,219,708-30,219,718 MAGEB2
    nsv7086820copy number variation1nstd229human GRCh38 chrX: 30,211,719-30,214,308 , GRCh37.p13 chrX: 30,229,836-30,232,425 MAGEB2, LOC107985632
    nsv2666362short tandem repeat4nstd128human GRCh37 chrX: 30,232,506-30,232,518 , GRCh38.p12 chrX: 30,214,389-30,214,401 MAGEB2, LOC107985632
    nsv2758305copy number variation1nstd130human NCBI36 chrX: 30,142,097-30,173,133 , GRCh37.p13 chrX: 30,232,176-30,263,212 , GRCh38.p12 chrX: 30,214,059-30,245,095 MAGEB2, MAGEB4, 3 more genes
    nsv2756397copy number variation1nstd130human NCBI36 chrX: 30,146,315-30,173,133 , GRCh37.p13 chrX: 30,236,394-30,263,212 , GRCh38.p12 chrX: 30,218,277-30,245,095 MAGEB2, MAGEB3, 2 more genes
    nsv520531copy number variation2nstd21human NCBI35 chrX: 29,879,434-29,991,833 , GRCh37.p13 chrX: 30,119,777-30,232,176 , GRCh38.p12 chrX: 30,101,660-30,214,059 MAGEB2, LOC100420324, 1 more genes
    nsv3893976copy number variation1nstd102humanPathogenic NCBI36 chrX: 29,955,055-30,250,925 , GRCh37 chrX: 30,045,134-30,341,004 , GRCh38 chrX: 30,027,017-30,322,887 MAGEB2, NR0B1, 6 more genes
    nsv3904162copy number variation1nstd102humanPathogenic GRCh38 chrX: 10,001-156,030,895 , GRCh37 chrX: 60,001-155,260,560 , NCBI36 chrX: 1-154,913,754 MAGEB2, NANOGNBP3, 2154 more genes
    nsv3913255copy number variation2nstd102humanPathogenic NCBI36 chrX: 701-154,913,754 , GRCh37.p13 chrX: 60,701-155,260,560 , GRCh38.p12 chrX: 10,701-156,030,895 MAGEB2, NHS-AS1, 2154 more genes
    nsv3907094copy number variation4nstd102humanPathogenic GRCh38 chrX: 10,679-156,022,206 , GRCh37 chrX: 60,679-155,251,871 , NCBI36 chrX: 679-154,905,065 MAGEB2, GPR119, 2153 more genes
    nsv3878553copy number variation2nstd102humanPathogenic GRCh37 chrX: 60,262-155,245,765 , GRCh38.p12 chrX: 10,262-156,016,100 MAGEB2, H2AB2, 2152 more genes
    nsv3898149copy number variation1nstd102humanPathogenic GRCh38 chrX: 20,297-156,026,127 , NCBI36 chrX: 10,297-154,908,986 , GRCh37 chrX: 70,297-155,255,792 MAGEB2, OR3B1P, 2154 more genes
    nsv3877395copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,255,839 , GRCh38.p12 chrX: 21,267-156,026,174 MAGEB2, ARMCX2, 2154 more genes
    nsv3884935copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,255,792 , GRCh38.p12 chrX: 21,267-156,026,127 MAGEB2, NDUFB11, 2154 more genes
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