A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547994



Internal ID15988717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158745498..158758153hg38UCSC Ensembl
Innerchr1:158715288..158727943hg19UCSC Ensembl
Innerchr1:156981912..156994567hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3812656
hg1912656
hg1812656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv591n54
Supporting Variantsnssv725021
Samples
Known GenesOR6K6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547994
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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