A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546293



Internal ID15987016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54628074..54629161hg38UCSC Ensembl
Innerchr1:55093747..55094834hg19UCSC Ensembl
Innerchr1:54866335..54867422hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381088
hg191088
hg181088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv282n54
Supporting Variantsnssv713470
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546293
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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