A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368067



Internal ID22316011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32596636..32598978hg38UCSC Ensembl
chr13:33170773..33173115hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg382343
hg192343
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230277
Supporting Variants
SamplesNA19240
Known GenesPDS5B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368067
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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