A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431535



Internal ID210310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44246441..44246492hg38UCSC Ensembl
chr22:44642321..44642372hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729391
Samples
Known GenesKIAA1644
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431535
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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