A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522030



Internal ID298303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48188983..48192234hg38UCSC Ensembl
chr15:48481180..48484431hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg383252
hg193252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17701240
Samples
Known GenesCTXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522030
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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