A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975035



Internal ID50744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132631238..132631398hg38UCSC Ensembl
chr5:131966930..131967090hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469329
Supporting Variants
Samples
Known GenesRAD50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975035
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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