A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400002



Internal ID179386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112104904..112104955hg38UCSC Ensembl
chr3:111823751..111823802hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936377
Samples
Known GenesC3orf52
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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