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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099260copy number variation1nstd231human GRCh38.p12 chr1: 207,518,788-210,916,265 , GRCh37 chr1: 207,692,133-211,089,607 ADORA2BP1, ATP5MC2P1, 60 more genes
    nsv7095781copy number variation1nstd102humanPathogenic GRCh37 chr1: 209,961,765-209,965,792 , GRCh38.p12 chr1: 209,788,420-209,792,447 IRF6
    nsv7044092inversion1nstd229human GRCh38 chr1: 203,118,726-211,305,271 , GRCh37.p13 chr1: 203,087,854-211,478,613 LOC100420418, LINC00260, 201 more genes
    nsv6671792copy number variation1nstd229human GRCh38 chr1: 209,735,401-209,809,600 , GRCh37.p13 chr1: 209,908,746-209,982,945 IRF6, C1orf74, 4 more genes
    nsv6658797copy number variation1nstd229human GRCh38 chr1: 209,788,646-209,790,494 , GRCh37.p13 chr1: 209,961,991-209,963,839 IRF6
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6626085copy number variation1nstd224human GRCh37 chr1: 209,918,090-210,024,715 , GRCh38.p12 chr1: 209,744,745-209,851,370 UTP25, C1orf74, 3 more genes
    nsv6626084copy number variation1nstd224human GRCh37 chr1: 209,621,776-210,982,084 , GRCh38.p12 chr1: 209,448,431-210,808,742 IRF6, TRAF3IP3, 23 more genes
    nsv6325553copy number variation1nstd223human GRCh38 chr1: 209,453,567-212,914,449 , GRCh37.p13 chr1: 209,626,912-213,087,791 ST13P19, RPS5P4, 74 more genes
    nsv6133752copy number variation1nstd213human GRCh37 chr1: 207,160,000-210,270,001 , GRCh38.p12 chr1: 206,986,655-210,096,656 ADORA2BP1, C4BPA, 62 more genes
    nsv6133630copy number variation2nstd213human GRCh37 chr1: 206,490,000-223,720,001 , GRCh38.p12 chr1: 206,316,655-223,546,636 ATP5MC2P1, CENPF, 269 more genes
    nsv5885881copy number variation1nstd209human GRCh38 chr1: 209,800,102-209,800,568 , GRCh37.p13 chr1: 209,973,447-209,973,913 IRF6
    nsv5673316copy number variation1nstd102humanPathogenic GRCh37 chr1: 209,974,565-209,979,435 , GRCh38.p12 chr1: 209,801,220-209,806,090 IRF6
    nsv5673158copy number variation1nstd102humanPathogenic GRCh37 chr1: 209,974,565-209,974,778 , GRCh38.p12 chr1: 209,801,220-209,801,433 IRF6
    nsv5554533sequence alteration1nstd206human GRCh38 chr1: 209,797,008-209,797,029 , GRCh37.p13 chr1: 209,970,353-209,970,374 IRF6
    nsv5539470insertion1nstd206human GRCh38 chr1: 209,800,104-209,800,104 , GRCh37.p13 chr1: 209,973,449-209,973,449 IRF6
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4898463copy number variation1nstd200human GRCh38 chr1: 209,803,611-209,803,748 , GRCh37.p13 chr1: 209,976,956-209,977,093 IRF6
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