A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729702



Internal ID153368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48274495..48278664hg38UCSC Ensembl
chr22:48670307..48674476hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg384170
hg194170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547702
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729702
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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