A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274076



Internal ID22198212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:65911090..65960016hg38UCSC Ensembl
Outerchr4:66776808..66825734hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381682
hg191682
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213631
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274076
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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