A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546278



Internal ID15987001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54627522..54629333hg38UCSC Ensembl
Innerchr1:55093195..55095006hg19UCSC Ensembl
Innerchr1:54865783..54867594hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381812
hg191812
hg181812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv279n54
Supporting Variantsnssv713446, nssv713447
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546278
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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