A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048490



Internal ID100203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75727030..75727189hg38UCSC Ensembl
chr11:75438075..75438234hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513125
Supporting Variants
Samples
Known GenesMOGAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048490
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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