A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547988



Internal ID15988711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158715246..158878274hg38UCSC Ensembl
Innerchr1:158685036..158848064hg19UCSC Ensembl
Innerchr1:156951660..157114688hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38163029
hg19163029
hg18163029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv589n54
Supporting Variantsnssv725011
Samples
Known GenesMNDA, OR6K3, OR6K6, OR6N1, OR6N2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547988
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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