A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216039



Internal ID22362167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93608879..93619665hg38UCSC Ensembl
Outerchr1:94074436..94085222hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381648
hg191648
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274359
SamplesHG00731
Known GenesBCAR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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