A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273700



Internal ID22185589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:164233998..164243404hg38UCSC Ensembl
Outerchr5:163661004..163670410hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg389407
hg199407
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196228
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273700
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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