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Items: 19

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    Number of Variants: 19

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6313675copy number variation1nstd102humanPathogenic GRCh37 chr1: 95,046,805-114,714,931 , GRCh38.p12 chr1: 94,581,249-114,172,309 SYPL2, LINC01307, 320 more genes
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 SYPL2, AMYP1, 320 more genes
    nsv3893941copy number variation1nstd102humanPathogenic NCBI36 chr1: 97,648,746-111,014,655 , GRCh37 chr1: 97,876,158-111,213,132 , GRCh38 chr1: 97,410,602-110,670,510 SYPL2, RPSAP19, 196 more genes
    nsv3901500copy number variation1nstd102humanPathogenic NCBI36 chr1: 101,856,241-112,047,173 , GRCh38 chr1: 101,618,097-111,703,028 , GRCh37 chr1: 102,083,653-112,245,650 SYPL2, CHIAP1, 171 more genes
    nsv3920130copy number variation1nstd102humanPathogenic NCBI36 chr1: 103,429,843-112,252,782 , GRCh37.p13 chr1: 103,657,255-112,451,259 , GRCh38.p12 chr1: 103,191,699-111,908,637 SYPL2, LOC105378898, 166 more genes
    nsv3901806copy number variation1nstd102humanPathogenic NCBI36 chr1: 105,812,437-112,534,771 , GRCh38 chr1: 105,468,292-112,190,626 , GRCh37 chr1: 106,010,914-112,733,248 SYPL2, LOC126987, 151 more genes
    nsv3909407copy number variation1nstd102humanPathogenic GRCh37 chr1: 106,617,209-110,686,912 , GRCh38 chr1: 106,074,587-110,144,290 , NCBI36 chr1: 106,418,732-110,488,435 SYPL2, PSMA5, 81 more genes
    nsv7095739copy number variation1nstd102humanPathogenic GRCh37 chr1: 108,679,275-111,674,176 , GRCh38.p12 chr1: 108,136,653-111,131,554 SYPL2, RPL7L1P21, 90 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 SYPL2, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 SYPL2, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 SYPL2, RNU1-153P, 4887 more genes
    nsv3882464copy number variation1nstd102humanPathogenic GRCh37 chr1: 93,837,992-121,343,783 , GRCh38.p12 chr1: 93,372,435-121,601,985 SYPL2, LINC02607, 513 more genes
    nsv3884558copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,054,724-111,671,707 , GRCh38.p12 chr1: 93,589,167-111,129,085 SYPL2, SLC25A24, 265 more genes
    nsv3890331copy number variation1nstd102humanPathogenic NCBI36 chr1: 104,669,629-120,321,801 , GRCh37 chr1: 104,868,106-120,471,049 , GRCh38 chr1: 104,325,484-119,977,655 SYPL2, OR11I1P, 324 more genes
    nsv3875681copy number variation1nstd102humanLikely pathogenic GRCh38 chr1: 103,175,204-111,410,059 , GRCh37.p13 chr1: 103,640,760-111,952,681 SYPL2, ALX3, 146 more genes
    nsv4436700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 107,779,092-111,199,205 , GRCh38.p12 chr1: 107,236,470-110,656,583 SYPL2, ALX3, 89 more genes
    nsv4453642copy number variation1nstd102humannot provided GRCh37 chr1: 108,926,313-111,266,497 , GRCh38.p12 chr1: 108,383,691-110,723,875 SYPL2, PSMA5, 79 more genes
    nsv6290678copy number variation1nstd102humanUncertain significance GRCh37 chr1: 108,346,477-110,177,123 , GRCh38.p12 chr1: 107,803,855-109,634,501 SYPL2, NDUFB3P1, 53 more genes
    nsv3902639copy number variation1nstd102humanUncertain significance GRCh38 chr1: 108,970,247-109,794,222 , NCBI36 chr1: 109,314,392-110,138,367 , GRCh37 chr1: 109,512,869-110,336,844 SYPL2, GSTM2, 35 more genes
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