A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275925



Internal ID22132697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:10624280..10642290hg38UCSC Ensembl
Outerchr5:10624392..10642402hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225447
Supporting Variants
SamplesHG00513
Known GenesANKRD33B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275925
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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