A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541118



Internal ID315761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17613902..17614904hg38UCSC Ensembl
chr22:18096668..18097670hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381003
hg191003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727510
Samples
Known GenesATP6V1E1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541118
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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