A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728509



Internal ID152175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31707951..31711525hg38UCSC Ensembl
chr22:32103937..32107511hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383575
hg193575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536862
Supporting Variants
Samples
Known GenesPRR14L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728509
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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