A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16929646



Internal ID20492
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 StatusS
Merged Variantsnsv5448802
Supporting Variants
Samples
Known GenesITPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16929646
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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