A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978565



Internal ID53082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168309244..168309333hg38UCSC Ensembl
chr5:167736249..167736338hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466935
Supporting Variants
Samples
Known GenesWWC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978565
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02482


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