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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3876238copy number variation1nstd102humanPathogenic GRCh38 chr7: 69,899,499-70,435,751 , GRCh37.p13 chr7: 69,364,485-69,900,737 AUTS2
    nsv3880996copy number variation1nstd102humanPathogenic GRCh38 chr2: 148,157,591-148,226,058 , GRCh37.p13 chr2: 148,915,160-148,983,627 MBD5
    nsv3876490copy number variation1nstd102humanPathogenic GRCh37 chr1: 100,472,570-100,477,109 , GRCh38 chr1: 100,007,014-100,011,553 SLC35A3
    nsv995357copy number variation2nstd37humanUncertain significance, Pathogenic GRCh37 chr7: 145,441,216-145,895,268 , GRCh38.p12 chr7: 145,744,123-146,198,176 CNTNAP2
    nsv995372copy number variation1nstd37humanPathogenic GRCh37 chr7: 69,765,424-69,912,439 , GRCh38.p12 chr7: 70,300,438-70,447,453 AUTS2
    nsv995313copy number variation1nstd37humanPathogenic GRCh37 chrX: 31,713,409-31,858,935 , GRCh38.p12 chrX: 31,695,292-31,840,818 DMD
    nsv531869copy number variation2nstd37humanPathogenic GRCh38.p12 chr2: 50,856,272-50,999,091 , NCBI36 chr2: 50,936,914-51,079,733 , GRCh37.p13 chr2: 51,083,410-51,226,229 NRXN1
    nsv2776206copy number variation1nstd37humanPathogenic GRCh37 chrX: 67,497,166-67,594,258 , GRCh38.p12 chrX: 68,277,324-68,374,416 OPHN1
    nsv2771508copy number variation1nstd37humanPathogenic GRCh38.p12 chr2: 50,480,625-50,566,643 , GRCh37 chr2: 50,707,763-50,793,781 NRXN1
    nsv498139copy number variation1nstd37humanPathogenic GRCh38.p12 chr2: 50,915,711-50,999,091 , NCBI36 chr2: 50,996,353-51,079,733 , GRCh37.p13 chr2: 51,142,849-51,226,229 NRXN1
    nsv2772983copy number variation1nstd37humanPathogenic GRCh37 chrX: 31,683,623-31,766,614 , GRCh38.p12 chrX: 31,665,506-31,748,497 DMD
    nsv915637copy number variation1nstd37humanPathogenic NCBI36 chrX: 32,203,767-32,281,623 , GRCh37.p13 chrX: 32,293,846-32,371,702 , GRCh38.p12 chrX: 32,275,729-32,353,585 DMD
    nsv2773255copy number variation1nstd37humanPathogenic GRCh37 chrX: 32,684,174-32,719,596 , GRCh38.p12 chrX: 32,666,057-32,701,479 DMD
    nsv533947copy number variation1nstd37humanPathogenic NCBI36 chr22: 49,484,192-49,512,543 , GRCh38.p12 chr22: 50,698,898-50,727,249 , GRCh37.p13 chr22: 51,137,326-51,165,677 , GRCh38.p12 chr22|NW_015148969.1: 35,094-63,365 SHANK3
    nsv995235copy number variation10nstd37humanPathogenic, Likely pathogenic GRCh37 chr7: 80,256,737-80,280,613 , GRCh38.p12 chr7: 80,627,421-80,651,297 CD36
    nsv932219copy number variation1nstd37humanPathogenic NCBI36 chrX: 152,949,495-152,953,562 , GRCh37.p13 chrX: 153,296,301-153,300,368 , GRCh38.p12 chrX: 154,030,850-154,034,917 , GRCh37.p13 chrX|NW_003871103.3: 1,464,829-1,468,896 MECP2
    nsv531983copy number variation1nstd101humanPathogenic NCBI36 chr16: 6,235,160-6,317,304 , GRCh38.p12 chr16: 6,245,158-6,327,302 , GRCh37.p13 chr16: 6,295,159-6,377,303 RBFOX1
    nsv532781copy number variation1nstd101humanPathogenic NCBI36 chr7: 68,935,186-68,968,732 , GRCh37.p13 chr7: 69,297,250-69,330,796 , GRCh38.p12 chr7: 69,832,264-69,865,810 AUTS2
    nsv995169copy number variation3nstd37humanPathogenic, Uncertain significance GRCh37 chrX: 38,486,799-38,628,556 , GRCh38.p12 chrX: 38,627,546-38,769,303 TSPAN7
    nsv3884481copy number variation1nstd102humanLikely pathogenic GRCh38 chr8: 3,914,469-4,157,437 , GRCh37.p13 chr8: 3,771,991-4,014,959 CSMD1
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