A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546271



Internal ID15986994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54627522..54628151hg38UCSC Ensembl
Innerchr1:55093195..55093824hg19UCSC Ensembl
Innerchr1:54865783..54866412hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv278n54
Supporting Variantsnssv713214, nssv713216, nssv713217, nssv713215, nssv713218, nssv713219
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546271
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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