A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv739727



Internal ID15686997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247991705..248047570hg38UCSC Ensembl
Innerchr1:248155007..248210872hg19UCSC Ensembl
Innerchr1:246221630..246277495hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3855866
hg1955866
hg1855866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549619
Supporting Variants
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)nssv739727
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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