A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267453



Internal ID22226074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240156087..240160651hg38UCSC Ensembl
Outerchr2:241095504..241100068hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381377
hg191377
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229506
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267453
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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