A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729970



Internal ID153636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50793182..50805365hg38UCSC Ensembl
chr22:51231610..51243793hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3812184
hg1912184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537418
Supporting Variants
Samples
Known GenesRPL23AP82
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729970
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001361


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