A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047356



Internal ID99418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:48234530..48888316hg38UCSC Ensembl
chr11:48256082..48909868hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38653787
hg19653787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501574
Supporting Variants
Samples
Known GenesOR4A47, OR4C3, OR4C45, OR4S1, OR4X1, OR4X2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047356
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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