A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265216



Internal ID22264732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238295674..238297300hg38UCSC Ensembl
Outerchr2:239204315..239205941hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382903
hg192903
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225843
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265216
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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