A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729447



Internal ID153113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44932369..44934679hg38UCSC Ensembl
chr22:45328249..45330559hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382311
hg192311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537421
Supporting Variants
Samples
Known GenesPHF21B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729447
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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