A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224216



Internal ID22367713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:36932955..36944086hg38UCSC Ensembl
Outerchr6:36900731..36911862hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277158
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224216
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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