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Items: 16

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    Number of Variants: 16

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3916498copy number variation1nstd102humanUncertain significance NCBI36 chr12: 42,214,861-42,302,455 , GRCh37 chr12: 43,928,594-44,016,188 , GRCh38 chr12: 43,534,791-43,622,385 ADAMTS20, RPL21P101, 1 more genes
    nsv3921330copy number variation1nstd102humanPathogenic GRCh37 chr12: 41,107,689-46,945,683 , GRCh38 chr12: 40,713,887-46,551,900 , NCBI36 chr12: 39,393,956-45,231,950 ADAMTS20, RACGAP1P1, 61 more genes
    nsv3916928copy number variation1nstd102humanPathogenic NCBI36 chr12: 42,194,761-46,386,352 , GRCh37.p13 chr12: 43,908,494-48,100,085 , GRCh38.p12 chr12: 43,514,691-47,706,302 ADAMTS20, RPAP3-DT, 51 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 ADAMTS20, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 ADAMTS20, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 ADAMTS20, RNU4ATAC16P, 2452 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 ADAMTS20, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 ADAMTS20, OR5BT1P, 2441 more genes
    nsv1398632copy number variation1nstd102humanPathogenic GRCh37 chr12: 31,886,971-50,360,461 , GRCh38.p12 chr12: 31,734,037-49,966,678 ADAMTS20, TUBB8P5, 252 more genes
    nsv3898591copy number variation1nstd102humanPathogenic GRCh37 chr12: 37,857,750-49,791,459 , GRCh38.p12 chr12: 37,463,948-49,397,676 ADAMTS20, ZNF75BP, 195 more genes
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADAMTS20, ADCY6, 187 more genes
    nsv3914794copy number variation1nstd102humanLikely benign GRCh37 chr12: 43,871,403-45,213,896 , NCBI36 chr12: 42,157,670-43,500,163 , GRCh38 chr12: 43,477,600-44,820,113 ADAMTS20, TWF1, 9 more genes
    nsv4729526copy number variation1nstd102humanUncertain significance GRCh37 chr12: 40,678,619-43,945,453 , GRCh38.p12 chr12: 40,284,817-43,551,650 ADAMTS20, LINC02450, 33 more genes
    nsv3914227copy number variation1nstd102humanUncertain significance GRCh38 chr12: 43,514,638-44,793,576 , GRCh37 chr12: 43,908,441-45,187,359 , NCBI36 chr12: 42,194,708-43,473,626 ADAMTS20, TMEM117, 9 more genes
    nsv6314491complex chromosomal rearrangement13nstd102humanUncertain significance GRCh37 chr3: 79,816,988-79,816,988 , GRCh37 chr3: 79,973,297-79,973,297 , GRCh37 chr3: 79,973,300-79,973,300 , GRCh37 chr3: 81,581,577-81,581,577 , GRCh37 chr6: 100,444,315-100,444,315 , GRCh37 chr12: 43,746,118-43,746,118 , GRCh37 chr2: 161,894,555-161,894,555 , GRCh37 chr2: 161,894,562-161,894,562 , GRCh37 chr2: 161,991,423-161,991,423 , GRCh37 chr2: 161,991,426-161,991,426 , GRCh37 chr6: 100,056,300-100,056,300 , GRCh37 chr6: 100,241,597-100,241,597 , GRCh37 chr6: 100,444,952-100,444,952 , GRCh37 chr6: 100,444,952-100,444,952 , GRCh37 chr3: 81,581,572-81,581,572 , GRCh37 chr6: 128,199,157-128,199,157 , GRCh37 chr21: 16,441,449-16,441,449 , GRCh37 chr21: 16,441,585-16,441,585 , GRCh37 chr3: 79,817,414-79,817,414 , GRCh37 chr6: 100,056,301-100,056,301 , GRCh37 chr6: 100,241,586-100,241,586 , GRCh37 chr6: 100,444,299-100,444,299 , GRCh37 chr6: 128,199,163-128,199,163 , GRCh37 chr12: 43,450,556-43,450,556 , GRCh37 chr12: 43,450,581-43,450,581 , GRCh37 chr12: 43,746,119-43,746,119 , GRCh38.p12 chr12: 43,056,753-43,056,753 , GRCh38.p12 chr12: 43,352,316-43,352,316 , GRCh38.p12 chr21: 15,069,128-15,069,128 , GRCh38.p12 chr3: 79,767,838-79,767,838 , GRCh38.p12 chr6: 127,878,012-127,878,012 , GRCh38.p12 chr12: 43,056,778-43,056,778 , GRCh38.p12 chr2: 161,038,044-161,038,044 , GRCh38.p12 chr2: 161,134,912-161,134,912 , GRCh38.p12 chr21: 15,069,264-15,069,264 , GRCh38.p12 chr6: 99,608,424-99,608,424 , GRCh38.p12 chr6: 99,793,721-99,793,721 , GRCh38.p12 chr6|NT_187556.1: 223,210-223,210 , GRCh38.p12 chr3: 79,768,264-79,768,264 , GRCh38.p12 chr3: 79,924,150-79,924,150 , GRCh38.p12 chr3: 81,532,426-81,532,426 , GRCh38.p12 chr6: 99,996,423-99,996,423 , GRCh38.p12 chr6: 99,996,439-99,996,439 , GRCh38.p12 chr12: 43,352,315-43,352,315 , GRCh38.p12 chr2: 161,038,051-161,038,051 , GRCh38.p12 chr2: 161,134,915-161,134,915 , GRCh38.p12 chr3: 79,924,147-79,924,147 , GRCh38.p12 chr3: 81,532,421-81,532,421 , GRCh38.p12 chr6: 99,608,425-99,608,425 , GRCh38.p12 chr6: 99,793,710-99,793,710 , GRCh38.p12 chr6: 99,997,076-99,997,076 , GRCh38.p12 chr6: 99,997,076-99,997,076 , GRCh38.p12 chr6: 127,878,018-127,878,018 , GRCh38.p12 chr6|NT_187556.1: 223,216-223,216 ADAMTS20, GBE1, 5 more genes
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 ADAMTS20, ASIC1, 491 more genes
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