A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17035068



Internal ID91112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48354819..48354870hg38UCSC Ensembl
chr10:49562862..49562913hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473924
Supporting Variants
Samples
Known GenesMAPK8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17035068
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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