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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3904603copy number variation1nstd102humanPathogenic NCBI36 chr1: 45,076,390-45,079,739 , GRCh37 chr1: 45,303,803-45,307,152 , GRCh38 chr1: 44,838,131-44,841,480 PTCH2
    nsv7095618copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,290,013-45,292,899 , GRCh38.p12 chr1: 44,824,341-44,827,227 PTCH2
    nsv6310812copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,295,206-45,297,698 , GRCh38.p12 chr1: 44,829,534-44,832,026 PTCH2
    nsv6310813copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,307,509-45,308,604 , GRCh38.p12 chr1: 44,841,837-44,842,932 PTCH2
    nsv7095617copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,288,087-45,308,604 , GRCh38.p12 chr1: 44,822,415-44,842,932 PTCH2, LOC107984952
    nsv4683766copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,288,077-45,298,023 , GRCh38.p12 chr1: 44,822,405-44,832,351 PTCH2, LOC107984952
    nsv4683381copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,288,077-45,289,067 , GRCh38.p12 chr1: 44,822,405-44,823,395 PTCH2, LOC107984952
    nsv6311021copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,288,087-45,289,067 , GRCh38.p12 chr1: 44,822,415-44,823,395 PTCH2, LOC107984952
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 PTCH2, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 PTCH2, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 PTCH2, RNU1-153P, 4887 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 PTCH2, LOC107984940, 407 more genes
    nsv3888489copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 45,303,358-52,157,856 , GRCh38.p12 chr1: 44,837,686-51,692,184 PTCH2, CDKN2C, 141 more genes
    nsv3889018copy number variation1nstd102humanBenign GRCh37 chr1: 45,237,119-45,287,094 , GRCh38.p12 chr1: 44,771,447-44,821,422 PTCH2, LOC107984952, 11 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 PTCH2, LINC01776, 1853 more genes
    nsv3878135copy number variation1nstd102humanUncertain significance GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841 PTCH2, LINC02786, 365 more genes
    nsv7095531copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,257,753-46,663,493 , GRCh38.p12 chr1: 43,792,082-46,197,821 PTCH2, AKR1A1, 87 more genes
    nsv6314936copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,346,001-46,332,161 , GRCh38.p12 chr1: 43,880,329-45,866,489 PTCH2, ZSWIM5, 79 more genes
    nsv3903595copy number variation1nstd102humanUncertain significance GRCh38 chr1: 43,896,056-44,867,736 , NCBI36 chr1: 44,134,315-45,105,995 , GRCh37 chr1: 44,361,728-45,333,408 PTCH2, SNORD145, 47 more genes
    nsv3904737copy number variation1nstd102humanUncertain significance GRCh38 chr1: 44,713,837-45,282,899 , NCBI36 chr1: 44,952,096-45,521,158 , GRCh37 chr1: 45,179,509-45,748,571 PTCH2, LOC105378690, 26 more genes
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