A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547496



Internal ID321339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:33399433..33399437hg38UCSC Ensembl
chr3:33440925..33440929hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932441
Samples
Known GenesUBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547496
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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