A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275059



Internal ID22126433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:162306135..162379466hg38UCSC Ensembl
Outerchr4:163227287..163300618hg19UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg3873332
hg1973332
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197819
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275059
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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