A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv267n54



Internal ID22768162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49488198..49634869hg38UCSC Ensembl
chr1:49953870..50100541hg19UCSC Ensembl
chr1:49726457..49873128hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38146672
hg19146672
hg18146672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546200, nsv546204
Samples
Known GenesAGBL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv267n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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