A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv474n54



Internal ID20133898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107861834..107862728hg38UCSC Ensembl
chr1:108404456..108405350hg19UCSC Ensembl
chr1:108205979..108206873hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38895
hg19895
hg18895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547355, nsv547356, nsv547357
Samples
Known GenesVAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv474n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer