A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17035067



Internal ID91111
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 StatusS
Merged Variantsnsv5399741
Supporting Variants
Samples
Known GenesMAPK8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17035067
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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