A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216982



Internal ID22362801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206145265..206170301hg38UCSC Ensembl
Outerchr1:206171029..206196065hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383710
hg193710
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268456
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216982
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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