A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729387



Internal ID153053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44175938..44176008hg38UCSC Ensembl
chr22:44571818..44571888hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552707
Supporting Variants
Samples
Known GenesPARVG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729387
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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