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Items: 16

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    Number of Variants: 16

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4681228copy number variation1nstd102humanPathogenic GRCh37 chr19: 46,087,871-46,088,032 , GRCh38.p12 chr19: 45,584,613-45,584,774 OPA3
    nsv6634485copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 46,057,170-46,088,123 , GRCh38.p12 chr19: 45,553,912-45,584,865 OPA3
    nsv5673225copy number variation1nstd102humanUncertain significance GRCh37 chr19: 46,057,054-46,057,106 , GRCh38 chr19: 45,553,796-45,553,848 OPA3
    nsv3891669copy number variation1nstd102humanPathogenic GRCh37 chr19: 43,013,365-47,241,534 , GRCh38.p12 chr19: 42,509,213-46,738,277 OPA3, MIR320E, 189 more genes
    nsv3904885copy number variation1nstd102humanPathogenic GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923 OPA3, ZNF321P, 2443 more genes
    nsv3903203copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793 OPA3, BABAM1, 2426 more genes
    nsv3903092copy number variation2nstd102humanPathogenic GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521 OPA3, LENG8, 2408 more genes
    nsv4457372copy number variation1nstd102humanPathogenic GRCh37 chr19: 28,271,106-49,213,832 , GRCh38.p12 chr19: 27,780,198-48,710,575 OPA3, ZNF461, 735 more genes
    nsv4676357copy number variation1nstd102humanPathogenic GRCh37 chr19: 44,738,088-53,621,561 , GRCh38.p12 chr19: 44,233,935-53,118,308 OPA3, MIR4324, 485 more genes
    nsv3924836copy number variation1nstd102humanPathogenic NCBI36 chr19: 50,166,517-53,452,471 , GRCh37 chr19: 45,474,677-48,760,659 , GRCh38 chr19: 44,971,420-48,257,402 OPA3, IGFL1P1, 145 more genes
    nsv3921787copy number variation1nstd102humanLikely pathogenic NCBI36 chr19: 50,582,487-52,026,097 , GRCh37 chr19: 45,890,647-47,334,257 , GRCh38 chr19: 45,387,389-46,831,000 OPA3, CALM3, 71 more genes
    nsv3924271copy number variation1nstd102humanUncertain significance GRCh38 chr19: 45,481,858-45,710,518 , GRCh37 chr19: 45,985,116-46,213,776 , NCBI36 chr19: 50,676,956-50,905,616 OPA3, RN7SL836P, 15 more genes
    nsv4676350copy number variation1nstd102humanUncertain significance GRCh37 chr19: 45,531,056-48,174,177 , GRCh38.p12 chr19: 45,027,798-47,670,920 OPA3, NKPD1, 112 more genes
    nsv6314081copy number variation1nstd102humanUncertain significance GRCh37 chr19: 45,074,342-46,133,841 , GRCh38.p12 chr19: 44,571,096-45,630,583 OPA3, EXOC3L2, 50 more genes
    nsv3921263copy number variation1nstd102humanUncertain significance GRCh37 chr19: 45,790,514-46,237,336 , NCBI36 chr19: 50,482,354-50,929,176 , GRCh38 chr19: 45,287,256-45,734,078 OPA3, MIR642A, 26 more genes
    nsv3899964copy number variation1nstd102humanUncertain significance GRCh37 chr19: 45,945,375-46,215,558 , GRCh38.p12 chr19: 45,442,117-45,712,300 OPA3, PPM1N, 17 more genes
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