A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975446



Internal ID51024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141922981..141925046hg38UCSC Ensembl
chr5:141302546..141304611hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382066
hg192066
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456727
Supporting Variants
Samples
Known GenesKIAA0141
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975446
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001719


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