A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266523



Internal ID22273482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239701979..239742766hg38UCSC Ensembl
Outerchr2:240623673..240664460hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381122
hg191122
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222786
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266523
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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