A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399741



Internal ID179128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48338679..48338730hg38UCSC Ensembl
chr10:49546722..49546773hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035067
Samples
Known GenesMAPK8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399741
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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