A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549620



Internal ID15990343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247998492..248059569hg38UCSC Ensembl
Innerchr1:248161794..248222871hg19UCSC Ensembl
Innerchr1:246228417..246289494hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3861078
hg1961078
hg1861078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv903n54
Supporting Variantsnssv739728
Samples
Known GenesOR2L13, OR2L2, OR2L5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549620
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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