A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729852



Internal ID153518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49607170..49641358hg38UCSC Ensembl
chr22:50000818..50035006hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3834189
hg1934189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543209
Supporting Variants
Samples
Known GenesC22orf34
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729852
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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