A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549621



Internal ID15990344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247998492..248086593hg38UCSC Ensembl
Innerchr1:248161794..248249895hg19UCSC Ensembl
Innerchr1:246228417..246316518hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3888102
hg1988102
hg1888102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739729
Samples
Known GenesOR2L13, OR2L2, OR2L3, OR2L5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549621
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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