A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273699



Internal ID22215837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:161317575..161365133hg38UCSC Ensembl
Outerchr5:160744582..160792140hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3847559
hg1947559
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199163
Supporting Variants
SamplesHG00733
Known GenesGABRB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273699
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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