A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272697



Internal ID22265578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141137827..141168407hg38UCSC Ensembl
Outerchr5:140517409..140547988hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3830581
hg1930580
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205635
Supporting Variants
SamplesNA19238
Known GenesPCDHB17, PCDHB5, PCDHB6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272697
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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