A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv596n54



Internal ID20134020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158757235..158761117hg38UCSC Ensembl
chr1:158727025..158730907hg19UCSC Ensembl
chr1:156993649..156997531hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg383883
hg193883
hg183883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548007, nsv548016
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv596n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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