A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417376



Internal ID196574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29833299..29833350hg38UCSC Ensembl
chr22:30229288..30229339hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728389
Samples
Known GenesASCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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