A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543265



Internal ID317570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28781368..28781588hg38UCSC Ensembl
chr22:29177356..29177576hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728327
Samples
Known GenesCCDC117
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543265
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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