A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322455



Internal ID22233851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117097781..117097910hg38UCSC Ensembl
chr5:116433477..116433606hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199545
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14322455
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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