A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546273



Internal ID15986996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54627522..54628315hg38UCSC Ensembl
Innerchr1:55093195..55093988hg19UCSC Ensembl
Innerchr1:54865783..54866576hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38794
hg19794
hg18794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv278n54
Supporting Variantsnssv713222, nssv713221
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546273
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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