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Items: 1 to 20 of 165

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 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 , LOC101060227, 1608 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, 1608 more genes
    nsv3904950copy number variation1nstd102humanPathogenic GRCh38 chr1: 166,762,832-175,327,423 , NCBI36 chr1: 164,998,693-173,563,182 , GRCh37 chr1: 166,732,069-175,296,559 LINC01681, SELE, 186 more genes
    nsv3901593copy number variation1nstd102humanPathogenic NCBI36 chr1: 161,618,937-174,112,781 , GRCh37 chr1: 163,352,313-175,846,158 , GRCh38 chr1: 163,382,523-175,877,022 NME7, LOC105371618, 233 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 more genes
    nsv3898268copy number variation1nstd102humanPathogenic NCBI36 chr1: 167,859,846-167,979,808 , GRCh37 chr1: 169,593,222-169,713,184 , GRCh38 chr1: 169,623,984-169,744,043 SELE, LOC107985745, 2 more genes
    nsv3896331copy number variation1nstd102humanPathogenic GRCh38 chr1: 164,922,655-180,061,589 , NCBI36 chr1: 163,158,516-178,297,347 , GRCh37 chr1: 164,891,892-180,030,724 GAS5-AS1, RNU7-78P, 290 more genes
    nsv3896314copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,187,474-178,044,969 , NCBI36 chr1: 167,454,098-176,311,592 , GRCh38 chr1: 169,218,236-178,075,834 RPS26P12, BRINP2, 150 more genes
    nsv3894431copy number variation1nstd102humanPathogenic NCBI36 chr1: 159,977,321-172,200,915 , GRCh37 chr1: 161,710,697-173,934,292 , GRCh38 chr1: 161,740,907-173,965,154 RPL21P27, LMX1A, 238 more genes
    nsv3893479copy number variation1nstd102humanPathogenic NCBI36 chr1: 166,550,684-173,535,058 , GRCh38 chr1: 168,314,822-175,299,299 , GRCh37 chr1: 168,284,060-175,268,435 GORAB-AS1, FMO4, 147 more genes
    nsv3890224copy number variation1nstd102humanPathogenic GRCh38 chr1: 157,747,246-176,021,247 , GRCh37 chr1: 157,717,036-175,990,383 , NCBI36 chr1: 155,983,660-174,257,006 LOC101928596, KCNJ10, 475 more genes
    nsv3889882copy number variation1nstd102humanPathogenic GRCh37 chr1: 159,815,642-177,026,983 , GRCh38.p12 chr1: 159,845,852-177,057,847 FMO4, RPL30P1, 403 more genes
    nsv3885421copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,095,250-175,778,910 , GRCh38.p12 chr1: 169,126,012-175,809,774 ZBTB37, LOC101928628, 130 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3873192copy number variation1nstd102humanPathogenic GRCh37 chr1: 161,676,893-184,071,723 , GRCh38.p12 chr1: 161,707,103-184,102,589 COLGALT2, NOS1AP, 402 more genes
    nsv3168056copy number variation1nstd158human GRCh38.p12 chr1: 84,243,714-179,997,709 , GRCh37 chr1: 84,709,397-179,966,844 , ABCA4, 1909 more genes
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