A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550904



Internal ID324403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45207043..45207360hg38UCSC Ensembl
chr22:45602924..45603241hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729464
Samples
Known GenesKIAA0930
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550904
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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