A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325008



Internal ID22131339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134215355..134215656hg38UCSC Ensembl
chr5:133551046..133551347hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201142
Supporting Variants
SamplesHG00513
Known GenesPPP2CA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325008
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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