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Items: 1 to 20 of 104

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv4602255copy number variation2nstd183human GRCh37 chr12: 131,356,584-131,356,885 , GRCh38.p12 chr12: 130,872,039-130,872,340 RAN
    nsv4599927copy number variation1nstd183human GRCh37 chr12: 131,356,597-131,357,402 , GRCh38.p12 chr12: 130,872,052-130,872,857 RAN
    nsv4456888copy number variation1nstd102humanUncertain significance GRCh37 chr12: 126,470,636-133,777,902 , GRCh38.p12 chr12: 125,986,090-133,201,316 LINC02347, LOC107987176, 145 more genes
    nsv4349911copy number variation1nstd102humanPathogenic GRCh37 chr12: 125,451,405-133,810,935 , GRCh38.p12 chr12: 124,966,859-133,234,349 LOC107987177, GOLGA3, 159 more genes
    nsv3924220copy number variation1nstd102humanPathogenic GRCh38 chr12: 115,131,583-133,166,920 , NCBI36 chr12: 114,053,771-132,253,579 , GRCh37 chr12: 115,569,388-133,743,506 LOC105370080, LINC02985, 376 more genes
    nsv3923347copy number variation1nstd102humanPathogenic NCBI36 chr12: 119,619,858-132,289,149 , GRCh37 chr12: 121,135,475-133,779,076 , GRCh38 chr12: 120,697,672-133,202,490 LOC105370044, RNU6-1017P, 273 more genes
    nsv3921145copy number variation1nstd102humanPathogenic GRCh37 chr12: 123,929,305-133,767,986 , GRCh38 chr12: 123,444,758-133,191,400 , NCBI36 chr12: 122,495,258-132,278,059 ZNF268, PTP4A1P2, 193 more genes
    nsv3920557copy number variation1nstd102humanPathogenic GRCh37 chr12: 118,603,264-133,758,908 , GRCh38 chr12: 118,165,459-133,182,322 , NCBI36 chr12: 117,087,647-132,268,981 TMED2, GCN1, 339 more genes
    nsv3915906copy number variation1nstd102humanPathogenic GRCh38 chr12: 126,403,612-133,166,920 , GRCh37 chr12: 126,888,158-133,743,506 , NCBI36 chr12: 125,454,111-132,253,579 FBRSL1, P2RX2, 135 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
    nsv3913894copy number variation1nstd102humanPathogenic NCBI36 chr12: 113,190,591-132,287,975 , GRCh38 chr12: 114,268,403-133,201,316 , GRCh37 chr12: 114,706,208-133,777,902 TAOK3, LINC02405, 386 more genes
    nsv3911281copy number variation1nstd102humanPathogenic GRCh38 chr12: 123,509,825-133,191,400 , GRCh37 chr12: 123,994,372-133,767,986 , NCBI36 chr12: 122,560,325-132,278,059 TMEM132C, RPL23AP67, 192 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 , LOH12CR2, 2452 more genes
    nsv3905135copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 130,973,400-133,777,902 , GRCh38.p12 chr12: 130,488,855-133,201,316 STX2, GOLGA3, 73 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 , OR5BT1P, 2441 more genes
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