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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5885240copy number variation1nstd209human GRCh38 chr1: 218,367,893-218,367,986 , GRCh37.p13 chr1: 218,541,235-218,541,328 TGFB2
    nsv5876915copy number variation1nstd209human GRCh38 chr1: 218,368,074-218,368,409 , GRCh37.p13 chr1: 218,541,416-218,541,751 TGFB2
    nsv5868707copy number variation1nstd209human GRCh38 chr1: 218,422,697-218,427,573 , GRCh37.p13 chr1: 218,596,039-218,600,915 TGFB2
    nsv5719328mobile element insertion1nstd211human GRCh38 chr1: 218,390,601-218,390,601 , GRCh37.p13 chr1: 218,563,943-218,563,943 TGFB2
    nsv5673253copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 218,578,501-218,610,848 , GRCh38.p12 chr1: 218,405,159-218,437,506 TGFB2
    nsv5542133insertion1nstd206human GRCh38 chr1: 218,422,697-218,422,704 , GRCh37.p13 chr1: 218,596,039-218,596,046 TGFB2
    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
    nsv5175428mobile element insertion1nstd203human GRCh38 chr1: 218,379,825-218,379,828 , GRCh37.p13 chr1: 218,553,167-218,553,170 TGFB2
    nsv5160928mobile element insertion1nstd203human GRCh38 chr1: 218,390,586-218,390,601 , GRCh37.p13 chr1: 218,563,928-218,563,943 TGFB2
    nsv4898767copy number variation1nstd200human GRCh38 chr1: 218,388,137-218,389,128 , GRCh37.p13 chr1: 218,561,479-218,562,470 TGFB2
    nsv4774421copy number variation1nstd200human GRCh37 chr1: 218,580,415-218,580,484 , GRCh38.p12 chr1: 218,407,073-218,407,142 TGFB2
    nsv4774420copy number variation1nstd200human GRCh37 chr1: 218,564,213-218,569,763 , GRCh38.p12 chr1: 218,390,871-218,396,421 TGFB2
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4683949copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 218,578,501-218,617,971 , GRCh38.p12 chr1: 218,405,159-218,444,629 TGFB2, TGFB2-OT1
    nsv4682790copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 218,578,501-218,578,684 , GRCh38.p12 chr1: 218,405,159-218,405,342 TGFB2
    nsv4682532copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 218,614,536-218,617,971 , GRCh38.p12 chr1: 218,441,194-218,444,629 TGFB2, TGFB2-OT1
    nsv4682095copy number variation1nstd102humanPathogenic GRCh37 chr1: 218,517,676-218,618,961 , GRCh38.p12 chr1: 218,344,334-218,445,619 TGFB2-OT1, TGFB2, 1 more genes
    nsv4681510copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 218,609,302-218,610,848 , GRCh38.p12 chr1: 218,435,960-218,437,506 TGFB2
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