A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214069



Internal ID22360829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:56065086..56102302hg38UCSC Ensembl
Outerchr6:55929884..55967100hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278892, nssv14278891
SamplesNA19239, HG00732
Known GenesCOL21A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214069
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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