A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216611



Internal ID22362552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168673563..168684570hg38UCSC Ensembl
Outerchr6:169074102..169084686hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381730
hg191730
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277220
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216611
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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