A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274706



Internal ID22198328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177062920..177072105hg38UCSC Ensembl
Outerchr5:176489921..176499106hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg389186
hg199186
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199774
Supporting Variants
SamplesHG00732
Known GenesZNF346
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274706
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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