A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395592



Internal ID22453462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44944890..44944951hg38UCSC Ensembl
chr22:45340770..45340831hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5959917
Supporting Variants
Samples
Known GenesPHF21B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395592
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.057


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