A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214952



Internal ID22361443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170235207..170247700hg38UCSC Ensembl
Outerchr6:170544997..170556788hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278312, nssv14278313
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214952
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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