A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973222



Internal ID49535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126424914..126763280hg38UCSC Ensembl
chr5:125760606..126098972hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38338367
hg19338367
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468365
Supporting Variants
Samples
Known GenesALDH7A1, C5orf48, GRAMD3, PHAX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973222
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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