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Items: 18

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    Number of Variants: 18

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4685928copy number variation1nstd102humanPathogenic GRCh38 chrMT: 6,003-11,220 , GRCh37 chrMT: 6,003-11,220 COX2, ND4L, 21 more genes
    nsv4685966copy number variation1nstd102humanLikely pathogenic GRCh37 chrMT: 5,794-14,876 , GRCh38 chrMT: 5,794-14,876 ATP6, ATP8, 26 more genes
    nsv4685879copy number variation1nstd102humanLikely pathogenic GRCh37 chrMT: 5,782-13,922 , GRCh38 chrMT: 5,782-13,922 ATP6, ATP8, 25 more genes
    esv2555754copy number variation1estd197human GRCh37.p13 chrMT: 3,308-3,309 , GRCh38.p12 chrMT: 3,308-3,309 , NCBI36 chrMT: 3,309-3,310 ND1, ND2, 5 more genes
    esv2599518copy number variation1estd197human GRCh37.p13 chrMT: 5,008-5,008 , GRCh38.p12 chrMT: 5,008-5,008 , NCBI36 chrMT: 5,009-5,009 TRNC, COX1, 5 more genes
    esv2505642copy number variation1estd197human GRCh37.p13 chrMT: 2,969-2,969 , GRCh38.p12 chrMT: 2,969-2,969 , NCBI36 chrMT: 2,971-2,971 ND1, ND2, 5 more genes
    esv2465247copy number variation1estd197human GRCh37.p13 chrMT: 2,492-2,492 , GRCh38.p12 chrMT: 2,492-2,492 , NCBI36 chrMT: 2,494-2,494 ND1, ND2, 5 more genes
    esv2431483copy number variation1estd197human GRCh37.p13 chrMT: 2,994-2,994 , GRCh38.p12 chrMT: 2,994-2,994 , NCBI36 chrMT: 2,996-2,996 ND1, ND2, 5 more genes
    esv2576391copy number variation1estd197human NCBI36 chrMT: 4,549-4,549 , GRCh37.p13 chrMT: 4,548-4,548 , GRCh38.p12 chrMT: 4,548-4,548 TRNY, COX1, 9 more genes
    esv2516227copy number variation1estd197human NCBI36 chrMT: 4,177-4,177 , GRCh37.p13 chrMT: 4,176-4,176 , GRCh38.p12 chrMT: 4,176-4,176 TRNY, COX1, 9 more genes
    esv2445696copy number variation1estd197human NCBI36 chrMT: 4,587-4,587 , GRCh37.p13 chrMT: 4,586-4,586 , GRCh38.p12 chrMT: 4,586-4,586 COX1, ND1, 9 more genes
    esv2632239insertion1estd197human GRCh37.p13 chrMT: 2,709-2,709 , GRCh38.p12 chrMT: 2,709-2,709 , NCBI36 chrMT: 2,711-2,711 ND1, ND2, 5 more genes
    esv2624010insertion1estd197human GRCh37.p13 chrMT: 2,890-2,890 , GRCh38.p12 chrMT: 2,890-2,890 , NCBI36 chrMT: 2,892-2,892 ND1, ND2, 5 more genes
    esv2565156insertion1estd197human GRCh37.p13 chrMT: 3,115-3,115 , GRCh38.p12 chrMT: 3,115-3,115 , NCBI36 chrMT: 3,116-3,116 ND1, ND2, 5 more genes
    esv2517402insertion1estd197human GRCh37.p13 chrMT: 5,155-5,155 , GRCh38.p12 chrMT: 5,155-5,155 , NCBI36 chrMT: 5,156-5,156 TRNC, COX1, 5 more genes
    esv2533563insertion1estd197human NCBI36 chrMT: 2,381-3,690 , GRCh37.p13 chrMT: 2,379-3,689 , GRCh38.p12 chrMT: 2,379-3,689 RNR2, ND2, 8 more genes
    esv2503758insertion1estd197human NCBI36 chrMT: 4,327-4,327 , GRCh37.p13 chrMT: 4,326-4,326 , GRCh38.p12 chrMT: 4,326-4,326 COX1, TRNN, 9 more genes
    nsv435992inversion1nstd16human GRCh37.p13 chrMT: 2,765-9,313 , GRCh38.p12 chrMT: 2,765-9,313 , NCBI36 chrMT: 2,767-9,314 ATP6, ATP8, 23 more genes
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