A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368769



Internal ID22190818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36359923..36360281hg38UCSC Ensembl
chr13:36934060..36934418hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217949
Supporting Variants
SamplesHG00731
Known GenesSPG20, SPG20OS
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368769
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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