A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273635



Internal ID22152885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178950985..178979189hg38UCSC Ensembl
Outerchr5:178377986..178406190hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3828205
hg1928205
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199570
Supporting Variants
SamplesHG00514
Known GenesGRM6, ZNF454
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273635
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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