A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729384



Internal ID153050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44168098..44172142hg38UCSC Ensembl
chr22:44563978..44568022hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384045
hg194045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549447
Supporting Variants
Samples
Known GenesPARVB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729384
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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