A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728053



Internal ID151719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24167739..24167790hg38UCSC Ensembl
chr22:24563707..24563758hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559746
Supporting Variants
Samples
Known GenesCABIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728053
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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