A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276164



Internal ID22134343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:57980558..57993416hg38UCSC Ensembl
Outerchr5:57276385..57289243hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381335
hg191335
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219282
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276164
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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