A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546196



Internal ID16333605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49273041..49450176hg38UCSC Ensembl
Innerchr1:49738713..49915848hg19UCSC Ensembl
Innerchr1:49511300..49688435hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38177136
hg19177136
hg18177136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712966
Samples
Known GenesAGBL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546196
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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