A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729181



Internal ID152847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41835229..41835229hg38UCSC Ensembl
chr22:42231233..42231233hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543720
Supporting Variants
Samples
Known GenesSREBF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729181
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.739791


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