A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214076



Internal ID22360832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:62653386..62707292hg38UCSC Ensembl
Outerchr6:63363291..63417197hg19UCSC Ensembl
Cytoband6q11.2
Allele length
AssemblyAllele length
hg383158
hg193158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277136
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214076
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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