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Items: 1 to 20 of 357

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148053copy number variation1nstd102humanUncertain significance GRCh37 chrX: 48,417,285-48,631,851 , GRCh38.p12 chrX: 48,558,897-48,773,435 LOC107985695, VN1R110P, 8 more genes
    nsv7140816insertion1nstd232human GRCh37.p13 chrX: 48,434,984-48,434,984 , GRCh38.p12 chrX: 48,576,596-48,576,596 RBM3
    nsv7140051copy number variation1nstd232human GRCh37.p13 chrX: 48,434,805-48,434,892 , GRCh38.p12 chrX: 48,576,417-48,576,504 RBM3
    nsv7137157inversion1nstd234human GRCh37 chrX: 31,626,542-82,320,140 , GRCh38.p12 chrX: 31,608,425-83,065,132 ABCB7, ACTG1P10, 775 more genes
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098786copy number variation1nstd102humanPathogenic GRCh37 chrX: 46,466,387-51,241,672 , GRCh38.p12 chrX: 46,606,952-51,498,820 LOC100419232, LOC791091, 172 more genes
    nsv7098417copy number variation2nstd102humanPathogenic GRCh37 chrX: 46,618,120-48,549,553 , GRCh38.p12 chrX: 46,758,685-48,691,162 ZNF81, LOC105373194, 84 more genes
    nsv7098319copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 48,368,209-51,241,672 , GRCh38.p12 chrX: 48,509,821-51,498,820 GRIPAP1, ASMER2, 92 more genes
    nsv7098318copy number variation3nstd102humanUncertain significance GRCh37 chrX: 47,001,716-50,659,607 , GRCh38.p12 chrX: 47,142,317-50,916,607 PYY3, CCDC120, 148 more genes
    nsv7098317copy number variation1nstd102humanPathogenic GRCh37 chrX: 46,466,387-50,659,607 , GRCh38.p12 chrX: 46,606,952-50,916,607 PLP2, RN7SL262P, 160 more genes
    nsv7087972copy number variation1nstd229human GRCh38 chrX: 48,577,001-48,598,200 , GRCh37.p13 chrX|NW_004070880.2: 816,430-837,629 , GRCh37.p13 chrX: 48,435,389-48,456,588 MRPL32P1, WDR13, 1 more genes
    nsv7087971copy number variation1nstd229human GRCh38 chrX: 48,576,008-48,576,387 , GRCh37.p13 chrX: 48,434,396-48,434,775 , GRCh37.p13 chrX|NW_004070880.2: 815,437-815,816 RBM3
    nsv7087967copy number variation1nstd229human GRCh38 chrX: 48,521,701-48,700,500 , GRCh37.p13 chrX|NW_004070880.2: 761,130-939,929 , GRCh37.p13 chrX: 48,380,089-48,558,891 EBP, TBC1D25, 7 more genes
    nsv7028188inversion1nstd229human GRCh38 chrX: 48,271,055-52,545,048 , GRCh37.p13 chrX|NW_004070877.1: 1-2,258,163 SSXP8, CACNA1F, 141 more genes
    nsv6637069copy number variation1nstd102humanPathogenic GRCh37 chrX: 39,525,562-52,832,596 , GRCh38.p12 chrX: 39,666,308-52,803,572 LOC100419238, NDP, 312 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 more genes
    nsv6315577complex substitution1nstd102humanPathogenic GRCh37 chrX: 590,376-56,315,041 , GRCh38.p12 chrX: 629,641-56,288,608 ACTG1P10, NR0B1, 778 more genes
    nsv6315393copy number variation1nstd102humanPathogenic GRCh37 chrX: 61,545-155,226,048 , GRCh38.p12 chrX: 11,545-155,996,383 H2BP8, LOC101060199, 2151 more genes
    nsv6315389copy number variation1nstd102humanPathogenic GRCh37 chrX: 11,522,765-155,233,731 , GRCh38.p12 chrX: 11,504,645-156,004,066 RBMX, LOC100129144, 2042 more genes
    nsv6315331copy number variation4nstd102humanPathogenic GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 PLAC1, PGK1P1, 2154 more genes
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