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Items: 1 to 20 of 22

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5060042delins1nstd102humanPathogenic GRCh37 chr1: 205,114,791-205,118,878 , GRCh38 chr1: 205,145,663-205,149,750 DSTYK
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 DSTYK, CRB1, 1608 more genes
    nsv3881313copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,682,513-212,815,646 , GRCh38.p12 chr1: 204,713,385-212,642,304 DSTYK, IL19, 184 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 DSTYK, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 DSTYK, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 DSTYK, RNU1-153P, 4887 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 DSTYK, LOC101060227, 1608 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 DSTYK, RGS18, 1186 more genes
    nsv3881012copy number variation1nstd102humanPathogenic GRCh37 chr1: 195,483,439-249,213,000 , GRCh38.p12 chr1: 195,514,309-248,918,801 DSTYK, LOC105372928, 1062 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 DSTYK, LOC105373279, 1036 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 DSTYK, RNA5S8, 893 more genes
    nsv3895767copy number variation1nstd102humanPathogenic GRCh38 chr1: 187,143,981-224,299,417 , NCBI36 chr1: 185,379,736-222,553,742 , GRCh37 chr1: 187,113,113-224,487,119 DSTYK, LOC107985458, 590 more genes
    nsv3889347copy number variation1nstd102humanPathogenic GRCh37 chr1: 185,644,663-221,698,833 , GRCh38.p12 chr1: 185,675,531-221,525,491 DSTYK, MIR1231, 543 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 DSTYK, PRELP, 527 more genes
    nsv3879807copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,811,907-228,997,888 , GRCh38.p12 chr1: 197,842,777-228,862,141 DSTYK, RABIF, 637 more genes
    nsv3892738copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,734,042-225,596,400 , NCBI36 chr1: 203,000,665-223,663,023 , GRCh38 chr1: 204,764,914-225,408,698 DSTYK, HLX, 354 more genes
    nsv3877139copy number variation1nstd102humanLikely pathogenic GRCh38 chr1: 204,033,173-208,209,798 , GRCh37.p13 chr1: 204,002,301-208,383,143 DSTYK, AVPR1B, 120 more genes
    nsv4674816copy number variation1nstd102humanUncertain significance GRCh37 chr1: 204,954,317-205,346,803 , GRCh38.p12 chr1: 204,985,189-205,377,675 DSTYK, CNTN2, 12 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 DSTYK, DCST1, 2428 more genes
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 DSTYK, SEPTIN14P12, 332 more genes
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