A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448802



Internal ID227060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4560119..4577745hg38UCSC Ensembl
chr3:4601803..4619429hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3817627
hg1917627
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16929646
Samples
Known GenesITPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448802
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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