A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237791



Internal ID22373973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:41020965..41052747hg38UCSC Ensembl
Outerchr22:41416969..41448751hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382427
hg192427
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268180, nssv14268177, nssv14268179, nssv14268173, nssv14268176, nssv14268175, nssv14268181, nssv14268174, nssv14268178
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237791
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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