A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728309



Internal ID151975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28661564..28667564hg38UCSC Ensembl
chr22:29057552..29063552hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146311
Supporting Variants
Samples
Known GenesTTC28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728309
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.011616


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