A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412234



Internal ID191537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:36223508..36223508hg38UCSC Ensembl
chr9:36223505..36223505hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735905
Samples
Known GenesGNE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412234
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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