A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17035070



Internal ID91113
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 StatusS
Merged Variantsnsv5486223
Supporting Variants
Samples
Known GenesMAPK8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17035070
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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