U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 1 to 20 of 112

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3881917copy number variation1nstd102humanLikely benign NCBI36 chr1: 142,545,263-142,802,181 , GRCh37 chr1: 143,753,740-144,090,824 , GRCh38.p12 chr1: 144,918,292-145,138,146 LOC101929805, LOC107985595, 3 more genes
    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 CRB1, STX6, 1608 more genes
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RPL9P11, FAM131C2P, 466 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv3900501copy number variation1nstd102humanPathogenic GRCh38 chr1: 3,006,193-17,688,934 , GRCh37 chr1: 2,922,757-18,015,429 , NCBI36 chr1: 2,912,617-17,888,016 MFFP1, RPL21P21, 364 more genes
    nsv3900236copy number variation1nstd102humanPathogenic GRCh38 chr1: 5,363,826-18,360,302 , GRCh37 chr1: 5,423,886-18,686,796 , NCBI36 chr1: 5,323,746-18,559,383 PDPN, PADI1, 333 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv3903429copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,126,513-147,699,831 , GRCh38 chr1: 143,515,074-149,563,337 , GRCh37 chr1: 145,415,156-149,433,207 PDZK1, LOC105369140, 216 more genes
    nsv3892730copy number variation1nstd102humanPathogenic GRCh37 chr1: 10,681,833-16,847,204 , GRCh38 chr1: 10,621,776-16,520,709 , NCBI36 chr1: 10,604,420-16,719,791 DHRS3, SBF1P2, 170 more genes
    nsv3899287copy number variation1nstd102humanPathogenic GRCh37 chr1: 15,711,763-21,306,842 , NCBI36 chr1: 15,584,350-21,179,429 , GRCh38 chr1: 15,385,267-20,980,349 EMC1-AS1, TRV-CAC11-2, 166 more genes
    nsv3892632copy number variation4nstd102humanPathogenic GRCh37 chr1: 145,747,242-149,155,026 , GRCh38 chr1: 143,515,074-149,076,087 , NCBI36 chr1: 144,458,599-147,421,650 LOC728989, MIR6077, 205 more genes
    nsv4728309copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,041,431-21,295,864 , GRCh38.p12 chr1: 15,714,936-20,969,371 RNU1-6P, TRG-CCC4-1, 150 more genes
    nsv6634349copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,157,447-148,016,122 , GRCh38.p12 chr1: 144,536,526-149,492,442 TRN-GTT10-1, LOC100996756, 170 more genes
    nsv3884385copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,089,268-149,376,652 , GRCh38.p12 chr1: 144,536,526-148,549,211 , GRCh38.p12 chr7: 58,093,723-62,429,627 LOC105371215, RNVU1-2, 151 more genes
    nsv6290404copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,043,714-148,514,899 , GRCh38.p12 chr1: 144,536,526-148,549,211 TRN-GTT9-2, RNU1-129P, 150 more genes
    nsv3888699copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,105,170-148,513,854 , GRCh38.p12 chr1: 144,536,526-148,549,211 LINC01731, LINC02806, 150 more genes
    nsv3881108copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,770,679-148,519,140 , GRCh38.p12 chr1: 144,536,526-148,549,211 NBPF10, LOC391092, 150 more genes
    nsv3879037copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,770,625-148,514,899 , GRCh38.p12 chr1: 144,536,526-148,549,211 TRN-GTT2-8, NBPF20, 150 more genes
    nsv3875576copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,784,611-148,519,963 , GRCh38.p12 chr1: 144,536,526-148,549,211 LOC107985593, PIAS3, 150 more genes
    Format
    Items per page

    Send to:

    Choose Destination

    Supplemental Content

    Find related data

    Search details

    See more...

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center