A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220191



Internal ID22364964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34697264..34712456hg38UCSC Ensembl
Outerchr6:34665041..34680233hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279374
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220191
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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