A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729443



Internal ID153109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44923075..44923115hg38UCSC Ensembl
chr22:45318955..45318995hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38840
hg19840
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558621
Supporting Variants
Samples
Known GenesPHF21B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729443
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002033


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