A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547995



Internal ID15988718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158745983..158759556hg38UCSC Ensembl
Innerchr1:158715773..158729346hg19UCSC Ensembl
Innerchr1:156982397..156995970hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3813574
hg1913574
hg1813574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv591n54
Supporting Variantsnssv725022
Samples
Known GenesOR6K6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547995
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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