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Items: 1 to 20 of 28

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4455138copy number variation1nstd102humanUncertain significance GRCh37 chr12: 122,681,331-122,730,394 , GRCh38.p12 chr12: 122,196,784-122,245,847 LRRC43, VPS33A, 3 more genes
    nsv3903823copy number variation1nstd102humanUncertain significance GRCh37 chr12: 122,676,019-122,710,016 , GRCh38.p12 chr12: 122,191,472-122,225,469 LRRC43, B3GNT4, 2 more genes
    nsv4455692copy number variation1nstd102humanPathogenic GRCh37 chr12: 122,169,403-129,084,163 , GRCh38.p12 chr12: 121,731,497-128,599,618 LRRC43, LOC107987176, 147 more genes
    nsv3923612copy number variation1nstd102humanPathogenic GRCh38 chr12: 120,718,786-127,500,215 , GRCh37 chr12: 121,156,589-127,984,760 , NCBI36 chr12: 119,640,972-126,550,713 LRRC43, NCOR2, 161 more genes
    nsv3916210copy number variation1nstd102humanPathogenic GRCh37 chr12: 122,355,664-128,287,262 , GRCh38 chr12: 121,917,758-127,802,717 , NCBI36 chr12: 120,840,047-126,853,215 LRRC43, RILPL2, 129 more genes
    nsv3921651copy number variation1nstd102humanPathogenic NCBI36 chr12: 119,426,254-121,510,218 , GRCh37 chr12: 120,941,871-122,944,265 , GRCh38 chr12: 120,504,068-122,459,718 LRRC43, ACADS, 58 more genes
    nsv3922210copy number variation1nstd102humanPathogenic NCBI36 chr12: 120,248,060-121,556,029 , GRCh37 chr12: 121,956,483-122,990,076 , GRCh38 chr12: 121,325,874-122,505,529 LRRC43, KDM2B-DT, 31 more genes
    nsv3915645copy number variation1nstd102humanPathogenic NCBI36 chr12: 120,393,186-121,510,218 , GRCh38 chr12: 121,471,000-122,459,718 , GRCh37 chr12: 121,956,483-122,944,265 LRRC43, IL31, 26 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 LRRC43, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 LRRC43, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 LRRC43, RNU4ATAC16P, 2452 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 LRRC43, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 LRRC43, OR5BT1P, 2441 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 LRRC43, TAOK3, 386 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 LRRC43, LOC105370080, 376 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 LRRC43, TMED2, 339 more genes
    nsv3896575copy number variation1nstd102humanPathogenic GRCh37 chr12: 120,367,241-133,777,645 , GRCh38.p12 chr12: 119,929,437-133,201,059 LRRC43, LOC107984448, 306 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 LRRC43, LOC105370044, 273 more genes
    nsv6290239copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 117,461,902-133,841,395 , GRCh38.p12 chr12: 117,024,097-133,264,809 LRRC43, ACADS, 356 more genes
    nsv7094203copy number variation1nstd102humanUncertain significance GRCh37 chr12: 122,277,634-124,242,579 , GRCh38.p12 chr12: 121,839,728-123,758,032 LRRC43, SBNO1, 58 more genes
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