A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546204



Internal ID16333613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49491764..49634869hg38UCSC Ensembl
Innerchr1:49957436..50100541hg19UCSC Ensembl
Innerchr1:49730023..49873128hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38143106
hg19143106
hg18143106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv267n54
Supporting Variantsnssv712980
Samples
Known GenesAGBL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546204
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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