A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486223



Internal ID263593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48356261..48364504hg38UCSC Ensembl
chr10:49564304..49572547hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg388244
hg198244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035070
Samples
Known GenesMAPK8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486223
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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