A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465128



Internal ID242999
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 StatusM
Merged Variants
Supporting Variantsnssv16973237
Samples
Known GenesALDH7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465128
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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