A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556010



Internal ID329157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25000356..25408475hg38UCSC Ensembl
chr22:25396323..25804442hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38408120
hg19408120
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728122
Samples
Known GenesCRYBB2, CRYBB3, IGLL3P, KIAA1671, LOC100128531, LRP5L
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556010
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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