A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv472n54



Internal ID20133896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107861418..107862728hg38UCSC Ensembl
chr1:108404040..108405350hg19UCSC Ensembl
chr1:108205563..108206873hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381311
hg191311
hg181311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547347, nsv547351, nsv547352, nsv547349, nsv547348
Samples
Known GenesVAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv472n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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