A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503168



Internal ID280009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:16758051..16758151hg38UCSC Ensembl
chr11:16779598..16779698hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042998
Samples
Known GenesC11orf58
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503168
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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