A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234757



Internal ID22373115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:21717611..21770886hg38UCSC Ensembl
Outerchr13:22291750..22345025hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg382011
hg192011
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256581, nssv14256583, nssv14256582, nssv14256580
SamplesNA19238, NA19239, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234757
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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