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Items: 1 to 20 of 212

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7074464inversion1nstd229human GRCh38 chr22: 43,918,591-49,788,574 , GRCh37.p13 chr22: 44,314,471-50,182,222 LOC107985536, LINC02939, 94 more genes
    nsv7063798inversion1nstd229human GRCh38 chr22: 46,184,190-49,118,231 , GRCh37.p13 chr22: 46,580,087-49,513,955 LOC105373080, LOC105373086, 29 more genes
    nsv7027741copy number variation1nstd229human GRCh38 chr22: 39,432,386-49,047,389 , GRCh37.p13 chr22: 39,828,391-49,443,201 LOC105373064, ACO2, 233 more genes
    nsv7025283copy number variation1nstd229human GRCh38 chr22: 44,970,256-48,899,837 , GRCh37.p13 chr22: 45,366,136-49,295,649 TAFA5, TRMU, 65 more genes
    nsv6638073copy number variation1nstd102humanPathogenic GRCh37 chr22: 43,436,847-51,188,164 , GRCh38.p12 chr22: 43,040,841-50,749,736 SCUBE1-AS1, MIR6821, 165 more genes
    nsv6637969copy number variation1nstd102humanPathogenic GRCh37 chr22: 44,178,749-51,183,840 , GRCh38.p12 chr22: 43,782,869-50,745,412 LOC105373081, RPL35AP36, 148 more genes
    nsv6637767copy number variation1nstd102humanPathogenic GRCh37 chr22: 44,390,702-51,137,629 , GRCh38.p12 chr22: 43,994,822-50,699,201 RN7SKP252, CDPF1, 139 more genes
    nsv6637710copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,977,448-51,197,838 , GRCh38.p12 chr22: 45,581,568-50,759,410 PKDREJ, MAPK11, 110 more genes
    nsv6637484copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,977,415-51,183,840 , GRCh38.p12 chr22: 45,581,535-50,745,412 MIR6821, LOC105373086, 108 more genes
    nsv6637355copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,889,148-51,197,838 , GRCh38.p12 chr22: 45,493,268-50,759,410 LOC105373068, SYCE3, 111 more genes
    nsv6627423copy number variation1nstd224human GRCh37 chr22: 46,612,672-46,835,265 , GRCh38.p12 chr22: 46,216,775-46,439,368 PPARA, CELSR1, 6 more genes
    nsv6547950copy number variation1nstd223human GRCh38 chr22: 46,245,886-46,247,084 , GRCh37.p13 chr22: 46,641,783-46,642,981 CDPF1
    nsv6314059copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,972,719-51,197,838 , GRCh38.p12 chr22: 42,576,713-50,759,410 TRABD, LOC100422416, 181 more genes
    nsv6313968copy number variation1nstd102humanPathogenic GRCh37 chr22: 43,451,316-46,662,660 , GRCh38.p12 chr22: 43,055,310-46,266,763 EFCAB6-DT, LOC107985535, 82 more genes
    nsv6290298copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,321,321-51,244,066 , GRCh38.p12 chr22: 41,925,317-50,805,638 CERK, LINC01315, 212 more genes
    nsv6134590copy number variation1nstd213human GRCh37 chr22: 44,520,000-47,030,001 , GRCh38.p12 chr22: 44,124,120-46,634,104 FBLN1, PPARA, 65 more genes
    nsv6134216copy number variation1nstd213human GRCh37 chr22: 46,350,000-51,240,001 , GRCh38.p12 chr22: 45,954,120-50,801,573 ACR, ARSA, 100 more genes
    nsv6134215copy number variation1nstd213human GRCh37 chr22: 45,620,000-51,240,001 , GRCh38.p12 chr22: 45,224,119-50,801,573 ACR, ARSA, 119 more genes
    nsv6134069copy number variation1nstd213human GRCh37 chr22: 45,020,000-48,940,001 , GRCh38.p12 chr22: 44,624,120-48,544,189 FBLN1, PPARA, 71 more genes
    nsv5948265copy number variation1nstd209human GRCh38 chr22: 46,249,002-46,249,054 , GRCh37.p13 chr22: 46,644,899-46,644,951 CDPF1
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