A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215970



Internal ID22362122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170064613..170088627hg38UCSC Ensembl
Outerchr6:170379837..170403851hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381390
hg191390
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279041, nssv14279042
SamplesNA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215970
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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