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Items: 1 to 20 of 98

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7074786inversion1nstd229human GRCh38 chr12: 47,059,202-48,408,098 , GRCh37.p13 chr12: 47,452,985-48,801,881 LOC102725258, RPAP3, 42 more genes
    nsv6934986copy number variation1nstd229human GRCh38 chr12: 47,078,733-47,079,172 , GRCh37.p13 chr12: 47,472,516-47,472,955 PCED1B, AMIGO2
    nsv6934928copy number variation1nstd229human GRCh38 chr12: 46,972,513-47,289,021 , GRCh37.p13 chr12: 47,366,296-47,682,804 IFITM3P6, AMIGO2, 5 more genes
    nsv6930293copy number variation1nstd229human GRCh38 chr12: 47,072,885-47,079,716 , GRCh37.p13 chr12: 47,466,668-47,473,499 PCED1B, AMIGO2
    nsv6918169copy number variation1nstd229human GRCh38 chr12: 46,741,501-47,141,800 , GRCh37.p13 chr12: 47,135,284-47,535,583 PCED1B, IFITM3P6, 3 more genes
    nsv6634445copy number variation1nstd102humanPathogenic GRCh37 chr12: 44,661,149-48,921,204 , GRCh38.p12 chr12: 44,267,366-48,527,421 ZNF641, MIR4698, 77 more genes
    nsv6621804copy number variation1nstd224human GRCh37 chr12: 47,233,301-47,471,980 , GRCh38.p12 chr12: 46,839,518-47,078,197 PCED1B, AMIGO2, 1 more genes
    nsv6621355copy number variation1nstd224human GRCh37 chr12: 47,440,496-47,732,638 , GRCh38.p12 chr12: 47,046,713-47,338,855 PCED1B, AMIGO2, 5 more genes
    nsv6465527copy number variation1nstd223human GRCh38 chr12: 47,072,885-47,079,716 , GRCh37.p13 chr12: 47,466,668-47,473,499 AMIGO2, PCED1B
    nsv6132248copy number variation1nstd213human GRCh37 chr12: 45,960,000-49,240,001 , GRCh38.p12 chr12: 45,566,217-48,846,218 LALBA, VDR, 83 more genes
    nsv5721906mobile element insertion1nstd211human GRCh38 chr12: 47,076,695-47,076,695 , GRCh37.p13 chr12: 47,470,478-47,470,478 AMIGO2
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5560438mobile element insertion1nstd206human GRCh38 chr12: 47,076,710-47,076,746 , GRCh37.p13 chr12: 47,470,493-47,470,529 AMIGO2
    nsv5029954inversion1nstd200human GRCh38 chr12: 38,328,571-48,487,625 , GRCh37.p13 chr12: 38,722,373-48,881,408 , MESDP1, 138 more genes
    nsv4985547copy number variation1nstd200human GRCh38 chr12: 46,916,434-47,094,944 , GRCh37.p13 chr12: 47,310,217-47,488,727 LOC107984466, AMIGO2, 1 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4675446copy number variation1nstd102humanUncertain significance GRCh37 chr12: 47,282,530-48,028,524 , GRCh38.p12 chr12: 46,888,747-47,634,741 MIR4698, LINC02416, 12 more genes
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 more genes
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