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Items: 1 to 20 of 128

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv4728394copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,012,532-39,548,268 , GRCh38.p12 chr2: 37,785,389-39,321,127 ATL2, LOC375196, 37 more genes
    nsv4452237copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 39,053,852-42,501,893 , GRCh38.p12 chr2: 38,826,710-42,274,753 SLC8A1, SOS1, 38 more genes
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4331174inversion1nstd166human GRCh37.p13 chr2: 36,139,982-53,112,348 , GRCh38.p12 chr2: 35,914,916-52,885,210 , ASS1P2, 247 more genes
    nsv4318621inversion1nstd166human GRCh37.p13 chr2: 21,612,232-41,909,281 , GRCh38.p12 chr2: 21,389,360-41,682,141 , CAD, 329 more genes
    nsv3919677inversion1nstd102humanPathogenic GRCh38.p12 chr2: 37,893,967-47,442,383 , GRCh37 chr2: 38,121,110-47,669,522 ASS1P2, BCYRN1, 151 more genes
    nsv3911681inversion1nstd102humanPathogenic GRCh38.p12 chr2: 29,223,528-42,325,554 , GRCh37 chr2: 29,446,394-42,552,694 ALK, ASS1P2, 163 more genes
    nsv3911624inversion1nstd102humanLikely pathogenic GRCh38.p12 chr2: 29,224,814-42,327,254 , GRCh37 chr2: 29,447,680-42,554,394 ALK, ASS1P2, 163 more genes
    nsv3908605copy number variation1nstd102humanPathogenic GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277 SLC35F6, LOC105374458, 801 more genes
    nsv3908288copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,816-46,210,371 , GRCh38 chr2: 236,816-45,983,232 , NCBI36 chr2: 226,816-46,063,875 ALLC, LOC105373429, 674 more genes
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
    nsv3899050copy number variation1nstd102humanPathogenic NCBI36 chr2: 37,081,204-42,035,330 , GRCh37 chr2: 37,227,700-42,181,826 , GRCh38 chr2: 37,000,557-41,954,686 LOC375196, RNU6-939P, 78 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
    nsv3882842copy number variation1nstd102humanPathogenic GRCh37 chr2: 34,792,916-56,676,541 , GRCh38.p12 chr2: 34,567,849-56,449,406 STON1, MSH6, 303 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 MTND2P22, LOC112268410, 3724 more genes
    nsv3879320copy number variation1nstd102humanPathogenic GRCh37 chr2: 22,665,048-52,850,368 , GRCh38.p12 chr2: 22,442,176-52,623,230 ATL2, UBXN2A, 465 more genes
    nsv3878831copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,297,845-39,347,583 , GRCh38.p12 chr2: 38,070,702-39,120,442 DHX57, RPL7P12, 29 more genes
    nsv3877469copy number variation1nstd102humanPathogenic GRCh37 chr2: 28,069,882-43,543,420 , GRCh38.p12 chr2: 27,847,015-43,316,281 FOSL2, EIF2AK2, 219 more genes
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