A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702737



Internal ID126403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52053250..52053814hg38UCSC Ensembl
chr15:52345447..52346011hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524036
Supporting Variants
Samples
Known GenesMAPK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702737
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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