A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265304



Internal ID22203226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:67905637..67925341hg38UCSC Ensembl
Outerchr2:68132769..68152473hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38923
hg19923
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222275
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265304
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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