A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274640



Internal ID22214663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178751783..178757416hg38UCSC Ensembl
Outerchr5:178178784..178184417hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228406
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274640
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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