A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498447



Internal ID275438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120564547..120577030hg38UCSC Ensembl
chr11:120435256..120447739hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3812484
hg1912484
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051405
Samples
Known GenesGRIK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498447
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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