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Items: 1 to 20 of 127

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099223copy number variation1nstd231human GRCh38.p12 chr1: 108,551,579-110,710,631 , GRCh37 chr1: 109,094,201-111,253,253 ALX3, AMPD2, 74 more genes
    nsv7095739copy number variation1nstd102humanPathogenic GRCh37 chr1: 108,679,275-111,674,176 , GRCh38.p12 chr1: 108,136,653-111,131,554 RPL7L1P21, GSTM4, 90 more genes
    nsv6639778copy number variation1nstd229human GRCh38 chr1: 110,098,959-110,154,070 , GRCh37.p13 chr1: 110,641,581-110,696,692 SLC6A17, LINC01397, 1 more genes
    nsv6313675copy number variation1nstd102humanPathogenic GRCh37 chr1: 95,046,805-114,714,931 , GRCh38.p12 chr1: 94,581,249-114,172,309 LINC01307, FTLP17, 320 more genes
    nsv6310577copy number variation1nstd102humanPathogenic GRCh37 chr1: 110,603,355-111,147,404 , GRCh38.p12 chr1: 110,060,733-110,604,782 LOC105378899, RBM15-AS1, 17 more genes
    nsv6133728copy number variation1nstd213human GRCh37 chr1: 110,560,000-110,790,001 , GRCh38.p12 chr1: 110,017,378-110,247,379 ALX3, KCNC4, 8 more genes
    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
    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
    nsv4453642copy number variation1nstd102humannot provided GRCh37 chr1: 108,926,313-111,266,497 , GRCh38.p12 chr1: 108,383,691-110,723,875 PSMA5, GSTM1, 79 more genes
    nsv4436700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 107,779,092-111,199,205 , GRCh38.p12 chr1: 107,236,470-110,656,583 ALX3, AMPD2, 89 more genes
    nsv4330538inversion1nstd166human GRCh37.p13 chr1: 94,223,082-113,632,613 , GRCh38.p12 chr1: 93,757,526-113,089,991 , AMPD2, 329 more genes
    nsv3966563insertion1nstd168human GRCh38 chr1: 110,064,401-110,143,423 , GRCh37.p13 chr1: 110,607,023-110,686,045 ALX3, UBL4B, 1 more genes
    nsv3963233complex substitution1nstd168human GRCh38 chr1: 110,101,997-110,122,558 , GRCh37.p13 chr1: 110,644,619-110,665,180 UBL4B, LINC01397
    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
    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
    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
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