A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546450



Internal ID15987173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68405344..68466239hg38UCSC Ensembl
Innerchr1:68871027..68931922hg19UCSC Ensembl
Innerchr1:68643615..68704510hg18UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg3860896
hg1960896
hg1860896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716146
Samples
Known GenesRPE65
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546450
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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