A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220107



Internal ID22364909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:65838943..65889664hg38UCSC Ensembl
Outerchr6:66548836..66599557hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg385656
hg195656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276601, nssv14276606, nssv14276602, nssv14276600, nssv14276598, nssv14276599, nssv14276605, nssv14276603, nssv14276604
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220107
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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