A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960475



Internal ID22735448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29767547..29769675hg38UCSC Ensembl
chr22:30163536..30165664hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382129
hg192129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409117
Samples
Known GenesUQCR10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960475
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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