A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276582



Internal ID22198680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:62645327..62653386hg38UCSC Ensembl
Outerchr6:63355232..63363291hg19UCSC Ensembl
Cytoband6q11.2
Allele length
AssemblyAllele length
hg386359
hg196359
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221659
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276582
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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