A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729126



Internal ID152792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41170796..41171825hg38UCSC Ensembl
chr22:41566800..41567829hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541021
Supporting Variants
Samples
Known GenesEP300
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729126
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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