A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549602



Internal ID15990325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247780934..247991997hg38UCSC Ensembl
Innerchr1:247944236..248155299hg19UCSC Ensembl
Innerchr1:246010859..246221922hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38211064
hg19211064
hg18211064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739679
Samples
Known GenesOR11L1, OR14A16, OR2AK2, OR2L13, OR2L1P, OR2L8, OR2T8, OR2W3, TRIM58
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549602
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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