A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890264



Internal ID22665291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49063852..49064027hg38UCSC Ensembl
chr3:49101285..49101460hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17425473
Samples
Known GenesQRICH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890264
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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