A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965861



Internal ID44566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68296751..68296851hg38UCSC Ensembl
chr5:67592579..67592679hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455107
Supporting Variants
Samples
Known GenesPIK3R1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965861
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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