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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv4894375copy number variation1nstd200human GRCh38 chr1: 106,941,008-107,328,458 , GRCh37.p13 chr1: 107,483,630-107,871,080 NTNG1, PRMT6
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4679048copy number variation1nstd189human GRCh37.p13 chr1: 104,704,157-108,066,414 , GRCh38.p12 chr1: 104,161,535-107,523,792 NTNG1, PRMT6, 23 more genes
    nsv4458589mobile element insertion1nstd166human GRCh37.p13 chr1: 107,602,196-107,602,196 , GRCh38.p12 chr1: 107,059,574-107,059,574 PRMT6
    nsv4330538inversion1nstd166human GRCh37.p13 chr1: 94,223,082-113,632,613 , GRCh38.p12 chr1: 93,757,526-113,089,991 , AMPD2, 329 more genes
    nsv4059784copy number variation1nstd166human GRCh37.p13 chr1: 107,483,630-107,871,080 , GRCh38.p12 chr1: 106,941,008-107,328,458 PRMT6, NTNG1
    nsv3920130copy number variation1nstd102humanPathogenic NCBI36 chr1: 103,429,843-112,252,782 , GRCh37.p13 chr1: 103,657,255-112,451,259 , GRCh38.p12 chr1: 103,191,699-111,908,637 LOC105378898, LOC105378901, 166 more genes
    nsv3909776copy number variation1nstd102humanPathogenic GRCh37 chr1: 97,737,905-109,435,760 , GRCh38 chr1: 97,272,349-108,893,138 , NCBI36 chr1: 97,510,493-109,237,283 SNX7, LOC112268286, 133 more genes
    nsv3909407copy number variation1nstd102humanPathogenic GRCh37 chr1: 106,617,209-110,686,912 , GRCh38 chr1: 106,074,587-110,144,290 , NCBI36 chr1: 106,418,732-110,488,435 PSMA5, STXBP3, 81 more genes
    nsv3907586copy number variation1nstd102humanUncertain significance NCBI36 chr1: 107,386,663-107,670,853 , GRCh37 chr1: 107,585,140-107,869,330 , GRCh38 chr1: 107,042,518-107,326,708 PRMT6, NTNG1
    nsv3901806copy number variation1nstd102humanPathogenic NCBI36 chr1: 105,812,437-112,534,771 , GRCh38 chr1: 105,468,292-112,190,626 , GRCh37 chr1: 106,010,914-112,733,248 LOC126987, VAV3-AS1, 151 more genes
    nsv3901500copy number variation1nstd102humanPathogenic NCBI36 chr1: 101,856,241-112,047,173 , GRCh38 chr1: 101,618,097-111,703,028 , GRCh37 chr1: 102,083,653-112,245,650 CHIAP1, LOC105378888, 171 more genes
    nsv3893941copy number variation1nstd102humanPathogenic NCBI36 chr1: 97,648,746-111,014,655 , GRCh37 chr1: 97,876,158-111,213,132 , GRCh38 chr1: 97,410,602-110,670,510 RPSAP19, ATXN7L2, 196 more genes
    nsv3890331copy number variation1nstd102humanPathogenic NCBI36 chr1: 104,669,629-120,321,801 , GRCh37 chr1: 104,868,106-120,471,049 , GRCh38 chr1: 104,325,484-119,977,655 OR11I1P, NHLH2, 324 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884558copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,054,724-111,671,707 , GRCh38.p12 chr1: 93,589,167-111,129,085 SLC25A24, LOC100271656, 265 more genes
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