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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137808copy number variation1nstd102humanLikely pathogenic GRCh38.p12 chr19: 49,568,107-49,662,685 , GRCh37 chr19: 50,071,364-50,165,942 IRF3, PRRG2, 4 more genes
    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
    nsv6137727copy number variation2nstd102humanUncertain significance GRCh38 chr3: 12,589,035-12,766,981 , GRCh37.p13 chr3: 12,630,534-12,808,480 RAF1, CRIP1P1, 1 more genes
    nsv6137713insertion1nstd102humanUncertain significance GRCh37 chr18: 48,581,368-48,581,368 , GRCh38 chr18: 51,054,998-51,054,998 SMAD4
    nsv6137707copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,565,626-30,221,925 , GRCh38.p12 chr16: 29,554,305-30,210,604 TAOK2, SLC7A5P1, 44 more genes
    nsv6137663copy number variation1nstd102humannot provided GRCh38 chr2: 46,009,609-46,144,092 , GRCh37.p13 chr2: 46,236,748-46,371,231 PRKCE
    nsv6131515mobile element insertion1nstd186human GRCh37 chr15: 34,031,852-34,031,903 , GRCh38.p12 chr15: 33,739,651-33,739,702 RYR3
    nsv6131259insertion1nstd186human GRCh37 chr19: 39,037,384-39,037,384 , GRCh38.p12 chr19: 38,546,744-38,546,744 RYR1
    nsv6131149insertion1nstd186human GRCh37 chr19: 39,044,965-39,044,965 , GRCh38.p12 chr19: 38,554,325-38,554,325 RYR1
    nsv6131062insertion1nstd186human GRCh37 chr19: 47,954,579-47,954,617 , GRCh38.p12 chr19: 47,451,322-47,451,360 SLC8A2
    nsv6130959insertion1nstd186human GRCh37 chr15: 34,086,520-34,086,549 , GRCh38.p12 chr15: 33,794,319-33,794,348 RYR3
    nsv6130414insertion1nstd186human GRCh37 chr19: 15,286,113-15,286,146 , GRCh38.p12 chr19: 15,175,302-15,175,335 NOTCH3
    nsv6130356insertion1nstd186human GRCh37 chr19: 40,734,606-40,734,638 , GRCh38.p12 chr19: 40,228,699-40,228,731 AKT2
    nsv6130011insertion1nstd186human GRCh37 chr19: 15,284,547-15,284,555 , GRCh38.p12 chr19: 15,173,736-15,173,744 NOTCH3
    nsv6129984insertion1nstd186human GRCh37 chr14: 105,628,830-105,628,862 , GRCh38.p12 chr14: 105,162,493-105,162,525 JAG2
    nsv6129949insertion1nstd186human GRCh37 chr15: 34,086,198-34,086,219 , GRCh38.p12 chr15: 33,793,997-33,794,018 RYR3
    nsv6129687insertion1nstd186human GRCh37 chr19: 2,559,746-2,559,746 , GRCh38.p12 chr19: 2,559,748-2,559,748 GNG7
    nsv6129462insertion1nstd186human GRCh37 chr14: 24,794,428-24,794,428 , GRCh38.p12 chr14: 24,325,222-24,325,222 , GRCh38.p12 chr14|NW_018654722.1: 626,200-626,200 ADCY4
    nsv6129269insertion1nstd186human GRCh37 chr14: 52,427,349-52,427,369 , GRCh38.p12 chr14: 51,960,631-51,960,651 GNG2
    nsv6127401copy number variation1nstd186human GRCh37 chr17: 8,713,633-8,715,450 , GRCh38.p12 chr17: 8,810,315-8,812,132 PIK3R6
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