A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729450



Internal ID153116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44999979..45000167hg38UCSC Ensembl
chr22:45395860..45396048hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552528
Supporting Variants
Samples
Known GenesPHF21B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729450
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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