A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550076



Internal ID323673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37320111..37320117hg38UCSC Ensembl
chr3:37361602..37361608hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932232
Samples
Known GenesGOLGA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550076
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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