A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729376



Internal ID153042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44054872..44060227hg38UCSC Ensembl
chr22:44450752..44456107hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg385356
hg195356
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539665
Supporting Variants
Samples
Known GenesPARVB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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