A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv471n54



Internal ID20133895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107861418..107862396hg38UCSC Ensembl
chr1:108404040..108405018hg19UCSC Ensembl
chr1:108205563..108206541hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38979
hg19979
hg18979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547342, nsv547345, nsv547344, nsv547343, nsv547346
Samples
Known GenesVAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv471n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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