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Items: 1 to 20 of 119

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7074199inversion1nstd229human GRCh38 chr12: 123,186,434-132,825,682 , GRCh37.p13 chr12: 123,670,981-133,402,268 PIWIL1, FZD10-AS1, 187 more genes
    nsv7072492inversion1nstd229human GRCh38 chr12: 129,800,433-131,135,675 , GRCh37.p13 chr12: 130,284,978-131,620,220 TMEM132D, LOC105370077, 17 more genes
    nsv7067399inversion1nstd229human GRCh38 chr12: 130,842,094-132,047,850 , GRCh37.p13 chr12: 131,326,639-132,532,395 LOC100128002, RPS6P20, 29 more genes
    nsv7065233inversion1nstd229human GRCh38 chr12: 129,874,079-131,069,710 , GRCh37.p13 chr12: 130,358,624-131,554,255 RAN, STX2, 16 more genes
    nsv7059834inversion1nstd229human GRCh38 chr12: 129,800,267-131,126,796 , GRCh37.p13 chr12: 130,284,812-131,611,341 ADGRD1-AS1, RAN, 17 more genes
    nsv6931362copy number variation1nstd229human GRCh38 chr12: 130,877,501-130,877,592 , GRCh37.p13 chr12: 131,362,046-131,362,137 RAN
    nsv6929151copy number variation1nstd229human GRCh38 chr12: 130,604,801-130,910,700 , GRCh37.p13 chr12: 131,089,346-131,395,245 STX2, RAN, 3 more genes
    nsv6926808copy number variation1nstd229human GRCh38 chr12: 130,878,101-130,940,200 , GRCh37.p13 chr12: 131,362,646-131,424,745 RAN
    nsv6923529copy number variation1nstd229human GRCh38 chr12: 130,791,001-130,935,000 , GRCh37.p13 chr12: 131,275,546-131,419,545 RNU6-1077P, RAN, 1 more genes
    nsv6922697copy number variation1nstd229human GRCh38 chr12: 130,859,018-130,885,837 , GRCh37.p13 chr12: 131,343,563-131,370,382 RAN, RNU6-1077P
    nsv6593588inversion1nstd223human GRCh38 chr12: 130,842,019-132,047,851 , GRCh37.p13 chr12: 131,326,564-132,532,396 RNA5SP376, LOC105370082, 29 more genes
    nsv6591906inversion1nstd223human GRCh38 chr12: 130,842,103-132,047,722 , GRCh37.p13 chr12: 131,326,648-132,532,267 RPS6P21, LOC101929974, 29 more genes
    nsv6290239copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 117,461,902-133,841,395 , GRCh38.p12 chr12: 117,024,097-133,264,809 ACADS, BCL7A, 356 more genes
    nsv6132415copy number variation1nstd213human GRCh37 chr12: 130,540,000-132,700,001 , GRCh38.p12 chr12: 130,055,455-132,215,456 ULK1, DDX51, 47 more genes
    nsv6132326copy number variation1nstd213human GRCh37 chr12: 131,210,000-131,390,001 , GRCh38.p12 chr12: 130,725,455-130,905,456 STX2, RAN, 2 more genes
    nsv5866997copy number variation2nstd209human GRCh38 chr12: 130,875,206-130,876,448 , GRCh37.p13 chr12: 131,359,751-131,360,993 RAN
    nsv5847857copy number variation2nstd209human GRCh38 chr12: 130,875,306-130,876,348 , GRCh37.p13 chr12: 131,359,851-131,360,893 RAN
    nsv4666310copy number variation1nstd186human GRCh37 chr12: 131,356,748-131,356,885 , GRCh38.p12 chr12: 130,872,203-130,872,340 RAN
    nsv4605629copy number variation1nstd183human GRCh37 chr12: 131,356,827-131,356,887 , GRCh38.p12 chr12: 130,872,282-130,872,342 RAN
    nsv4602762copy number variation2nstd183human GRCh37 chr12: 131,356,748-131,356,885 , GRCh38.p12 chr12: 130,872,203-130,872,340 RAN
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