A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17041638



Internal ID95464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4586000..4594200hg38UCSC Ensembl
chr11:4607230..4615430hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg388201
hg198201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508306
Supporting Variants
Samples
Known GenesOR52I1, OR52I2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17041638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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