A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266741



Internal ID22285772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240902189..240933269hg38UCSC Ensembl
Outerchr2:241841606..241872686hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381374
hg191374
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217787
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266741
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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