A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729448



Internal ID153114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44944890..44944952hg38UCSC Ensembl
chr22:45340770..45340832hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146260
Supporting Variants
Samples
Known GenesPHF21B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729448
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.171694


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