A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422007



Internal ID201063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31203226..31203277hg38UCSC Ensembl
chr22:31599212..31599263hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728472
Samples
Known GenesRNF185
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422007
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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