A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888469



Internal ID22663475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4746491..4748272hg38UCSC Ensembl
chr3:4788175..4789956hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg381782
hg191782
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427539
Samples
Known GenesITPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888469
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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