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Items: 1 to 20 of 392

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7141203insertion1nstd232human GRCh37.p13 chrX: 119,575,750-119,575,750 , GRCh38.p12 chrX: 120,441,895-120,441,895 LAMP2
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098494copy number variation1nstd102humanUncertain significance GRCh37 chrX: 119,565,178-119,581,900 , GRCh38.p12 chrX: 120,431,323-120,448,045 LAMP2
    nsv7098219copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 119,589,192-119,589,445 , GRCh38.p12 chrX: 120,455,337-120,455,590 LAMP2
    nsv7098218copy number variation1nstd102humanUncertain significance GRCh37 chrX: 118,708,675-119,761,021 , GRCh38.p12 chrX: 119,574,712-120,627,166 RHOXF2B, RHOXF1P3, 33 more genes
    nsv7098217copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 117,629,935-119,761,021 , GRCh38.p12 chrX: 118,495,972-120,627,166 HNRNPA1P28, RNU7-86P, 59 more genes
    nsv7098112copy number variation1nstd102humanPathogenic GRCh37 chrX: 119,602,941-119,603,024 , GRCh38.p12 chrX: 120,469,086-120,469,169 LAMP2
    nsv7097983copy number variation1nstd102humanPathogenic GRCh37 chrX: 119,565,178-119,576,537 , GRCh38.p12 chrX: 120,431,323-120,442,682 LAMP2
    nsv7083250copy number variation1nstd229human GRCh38 chrX: 120,463,732-120,463,957 , GRCh37.p13 chrX: 119,597,587-119,597,812 LAMP2
    nsv7083249copy number variation1nstd229human GRCh38 chrX: 120,429,290-120,429,333 , GRCh37.p13 chrX: 119,563,145-119,563,188 LAMP2
    nsv7083236copy number variation1nstd229human GRCh38 chrX: 120,269,414-120,442,386 , GRCh37.p13 chrX: 119,403,269-119,495,352 , GRCh37.p13 chrX|NW_004070886.1: 321,844-413,927 ATP1B4, LAMP2, 2 more genes
    nsv7083231copy number variation1nstd229human GRCh38 chrX: 120,204,139-120,448,634 , GRCh37.p13 chrX|NW_004070886.1: 256,569-413,927 , GRCh37.p13 chrX: 119,337,988-119,495,352 NKAPP1, LOC107985629, 5 more genes
    nsv7057233inversion1nstd229human GRCh38 chrX: 117,599,215-122,918,174 , GRCh37.p13 chrX: 116,733,178-122,052,027 NUDT19P1, RHOXF1P2, 89 more genes
    nsv7053504inversion1nstd229human GRCh38 chrX: 120,459,599-120,459,670 , GRCh37.p13 chrX: 119,593,454-119,593,525 LAMP2
    nsv7053106inversion1nstd229human GRCh38 chrX: 118,857,141-120,493,178 , GRCh37.p13 chrX: 117,991,104-119,627,033 LINC03098, RNF113A, 49 more genes
    nsv7049773inversion1nstd229human GRCh38 chrX: 118,660,648-122,841,710 , GRCh37.p13 chrX: 117,794,611-121,975,563 NUDT19P6, MRPS17P9, 83 more genes
    nsv7038305inversion1nstd229human GRCh38 chrX: 118,464,002-122,855,541 , GRCh37.p13 chrX: 117,597,965-121,989,394 UBE2V1P16, RNY3P16, 84 more genes
    nsv6636687copy number variation1nstd102humanUncertain significance GRCh37 chrX: 119,495,440-119,758,649 , GRCh38.p12 chrX: 120,361,585-120,624,794 ATP1B4, RNU7-86P, 5 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 more genes
    nsv6315429copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,670,699-155,233,731 , GRCh38.p12 chrX: 78,415,202-156,004,066 H2AB1, GPR174, 1081 more genes
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