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Items: 1 to 20 of 484

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4417315copy number variation1nstd174human GRCh37 chr12: 46,631,156-46,632,073 , GRCh38.p12 chr12: 46,237,373-46,238,290 SLC38A1
    nsv4388758copy number variation1nstd171human GRCh37 chr8: 18,245,335-18,245,369 , GRCh38.p12 chr8: 18,387,825-18,387,859 NAT2
    nsv4360380copy number variation1nstd102humanPathogenic NCBI36 chr8: 12,689,152-20,854,180 , GRCh37.p13 chr8: 12,644,781-20,809,900 , GRCh38.p12 chr8: 12,787,272-20,952,389 NAT2, LPL, 96 more genes
    nsv4360379copy number variation1nstd102humanPathogenic NCBI36 chr8: 14,841,990-49,005,038 , GRCh37.p13 chr8: 14,797,619-48,842,485 , GRCh38.p12 chr8: 14,940,110-47,929,925 NAT2, ATP6V1B2, 509 more genes
    nsv4360378copy number variation1nstd102humanPathogenic NCBI36 chr8: 12,600,375-35,453,142 , GRCh37.p13 chr8: 12,556,004-35,333,600 , GRCh38.p12 chr8: 12,698,495-35,476,082 NAT2, CHRNA2, 355 more genes
    nsv4360280copy number variation1nstd102humanPathogenic NCBI36 chr8: 12,548,003-43,661,143 , GRCh37.p13 chr8: 12,503,632-43,541,986 , GRCh38.p12 chr8: 12,646,123-43,686,843 NAT2, ADRA1A, 502 more genes
    nsv4359888copy number variation1nstd102humanUncertain significance NCBI36 chr8: 17,761,799-18,308,784 , GRCh37.p13 chr8: 17,717,519-18,264,504 , GRCh38.p12 chr8: 17,860,010-18,406,994 NAT2, NATP, 10 more genes
    nsv4359624copy number variation1nstd102humanPathogenic NCBI36 chr8: 12,285,464-36,347,088 , GRCh37.p13 chr8: 12,241,093-36,227,536 , GRCh38.p12 chr8: 12,383,584-36,370,018 NAT2, ADRA1A, 377 more genes
    nsv4359596copy number variation1nstd102humanPathogenic NCBI36 chr12: 39,393,956-45,231,950 , GRCh37.p13 chr12: 41,107,689-46,945,683 , GRCh38.p12 chr12: 40,713,887-46,551,900 CNTN1, PPHLN1, 62 more genes
    nsv4359056copy number variation1nstd102humanPathogenic NCBI36 chr8: 12,652,676-43,506,744 , GRCh37.p13 chr8: 12,608,305-43,387,587 , GRCh38.p12 chr8: 12,750,796-43,532,444 NAT2, ADRA1A, 494 more genes
    nsv4358758copy number variation2nstd102humanPathogenic NCBI36 chr8: 12,630,784-43,647,507 , GRCh37.p13 chr8: 12,586,413-43,528,350 , GRCh38.p12 chr8: 12,728,904-43,673,207 NAT2, NAT1, 495 more genes
    nsv4358274copy number variation1nstd102humanPathogenic NCBI36 chr8: 12,627,630-30,157,579 , GRCh37.p13 chr8: 12,583,259-30,038,037 , GRCh38.p12 chr8: 12,725,750-30,180,521 NAT2, NAT1, 287 more genes
    nsv4358128copy number variation1nstd102humanPathogenic NCBI36 chr8: 12,077,339-43,647,507 , GRCh37.p13 chr8: 12,039,930-43,528,350 , GRCh38.p12 chr8: 12,182,421-43,673,207 NAT2, NAT1, 523 more genes
    nsv4356912copy number variation1nstd102humanPathogenic NCBI36 chr8: 12,285,464-43,647,507 , GRCh37.p13 chr8: 12,241,093-43,528,350 , GRCh38.p12 chr8: 12,383,584-43,673,207 NAT2, NATP, 512 more genes
    nsv4356612copy number variation1nstd102humanPathogenic NCBI36 chr8: 12,284,724-28,539,000 , GRCh37.p13 chr8: 12,240,353-28,483,081 , GRCh38.p12 chr8: 12,382,844-28,625,564 NAT2, NATP, 272 more genes
    nsv4356387copy number variation1nstd102humanPathogenic NCBI36 chr8: 12,630,784-40,145,870 , GRCh37.p13 chr8: 12,586,413-40,026,713 , GRCh38.p12 chr8: 12,728,904-40,169,194 NAT2, NAT1, 430 more genes
    nsv4356283copy number variation1nstd102humanPathogenic NCBI36 chr8: 11,746,031-37,193,009 , GRCh37.p13 chr8: 11,708,622-37,073,851 , GRCh38.p12 chr8: 11,851,113-37,216,333 NAT2, ADRA1A, 422 more genes
    nsv4355844copy number variation1nstd102humanPathogenic NCBI36 chr8: 12,511,855-37,868,676 , GRCh37.p13 chr8: 12,467,484-37,749,518 , GRCh38.p12 chr8: 12,609,975-37,892,000 NAT2, CHRNA2, 394 more genes
    nsv4355721copy number variation1nstd102humanLikely benign NCBI36 chr8: 17,983,768-18,338,039 , GRCh37.p13 chr8: 17,939,488-18,293,759 , GRCh38.p12 chr8: 18,081,979-18,436,249 NAT2, RPL10AP11, 8 more genes
    nsv4355561copy number variation1nstd102humanPathogenic NCBI36 chr8: 166,452-146,264,902 , GRCh37.p13 chr8: 176,452-146,294,098 , GRCh38.p12 chr8: 226,452-145,068,712 NAT2, ADRB3, 2159 more genes
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