A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973237



Internal ID49546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126585751..126589383hg38UCSC Ensembl
chr5:125921443..125925075hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383633
hg193633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465128
Supporting Variants
Samples
Known GenesALDH7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973237
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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