A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223238



Internal ID22367073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170494412..170523849hg38UCSC Ensembl
Outerchr6:170803500..170832937hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38921
hg19921
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277132, nssv14277133
SamplesHG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223238
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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