A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728321



Internal ID151987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28745278..28747956hg38UCSC Ensembl
chr22:29141266..29143944hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg382679
hg192679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552004
Supporting Variants
Samples
Known GenesHSCB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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