A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547993



Internal ID15988716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158745498..158758097hg38UCSC Ensembl
Innerchr1:158715288..158727887hg19UCSC Ensembl
Innerchr1:156981912..156994511hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3812600
hg1912600
hg1812600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv591n54
Supporting Variantsnssv725020, nssv725019
Samples
Known GenesOR6K6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547993
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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