A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219385



Internal ID22364422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170049849..170067733hg38UCSC Ensembl
Outerchr6:170365073..170382957hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38668
hg19668
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279443
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219385
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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