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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7077519inversion1nstd229human GRCh38 chr12: 86,495,718-92,133,299 , GRCh37.p13 chr12: 86,889,495-92,527,075 CEP290, MIR3059, 60 more genes
    nsv7071337inversion1nstd229human GRCh38 chr12: 89,158,605-90,846,932 , GRCh37.p13 chr12: 89,552,382-91,240,709 RNA5SP365, BRWD1P2, 20 more genes
    nsv7060010inversion1nstd229human GRCh38 chr12: 86,085,575-91,207,469 , GRCh37.p13 chr12: 86,479,353-91,601,246 POC1B, C12orf50, 55 more genes
    nsv6471319copy number variation1nstd223human GRCh38 chr12: 89,496,401-89,533,900 , GRCh37.p13 chr12: 89,890,178-89,927,677 POC1B-AS1, POC1B, 3 more genes
    nsv6314102copy number variation1nstd102humanUncertain significance GRCh37 chr12: 89,546,727-89,911,511 , GRCh38.p12 chr12: 89,152,950-89,517,734 GALNT4, MRPS6P4, 6 more genes
    nsv6309488copy number variation1nstd102humanUncertain significance GRCh37 chr12: 88,442,961-89,919,672 , GRCh38.p12 chr12: 88,049,184-89,525,895 RLIG1, LOC105369886, 20 more genes
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132715copy number variation1nstd213human GRCh37 chr12: 84,440,000-93,800,001 , GRCh38.p12 chr12: 84,046,221-93,406,225 , BTG1, 102 more genes
    nsv6132620copy number variation1nstd213human GRCh37 chr12: 89,850,000-91,010,001 , GRCh38.p12 chr12: 89,456,223-90,616,224 GALNT4, POC1B, 15 more genes
    nsv6132619copy number variation1nstd213human GRCh37 chr12: 89,750,000-90,190,001 , GRCh38.p12 chr12: 89,356,223-89,796,224 ATP2B1, GALNT4, 9 more genes
    nsv5037136inversion1nstd200human GRCh38 chr12: 69,787,024-109,882,221 , GRCh37.p13 chr12: 70,180,804-110,320,026 , RPL23AP68, 540 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv5032581inversion1nstd200human GRCh38 chr12: 67,763,754-90,678,993 , GRCh37.p13 chr12: 68,157,534-91,072,770 , LOC105369886, 255 more genes
    nsv4888823inversion1nstd200human GRCh37 chr12: 68,157,543-91,072,771 , GRCh38.p12 chr12: 67,763,763-90,678,994 , BEST3, 255 more genes
    nsv4886161inversion1nstd200human GRCh37 chr12: 70,180,810-110,320,027 , GRCh38.p12 chr12: 69,787,030-109,882,222 , LOC728739, 540 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 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
    nsv4683190copy number variation1nstd102humanPathogenic GRCh37 chr12: 88,910,111-89,985,072 , GRCh38.p12 chr12: 88,516,334-89,591,295 RNU1-117P, MRPS6P4, 15 more genes
    nsv4578268copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 87,296,336-90,301,051 , GRCh38.p12 chr12: 86,902,559-89,907,274 ATP2B1, CENPCP1, 39 more genes
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