A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322465



Internal ID22275858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117316251..117316374hg38UCSC Ensembl
chr5:116651947..116652070hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199433
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14322465
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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