A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971698



Internal ID48488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115294786..115294861hg38UCSC Ensembl
chr5:114630483..114630558hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465334
Supporting Variants
Samples
Known GenesCCDC112
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971698
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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