A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325219



Internal ID22282622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162713285..162850337hg38UCSC Ensembl
chr5:162140291..162277343hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38137053
hg19137053
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208281
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325219
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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