A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265732



Internal ID22146147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239637240..239646781hg38UCSC Ensembl
Outerchr2:240558934..240568475hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382523
hg192523
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215869
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265732
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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