A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273559



Internal ID22198123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:151377580..151386111hg38UCSC Ensembl
Outerchr5:150757141..150765672hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg388532
hg198532
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200158
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273559
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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