A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv473n54



Internal ID20133897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107861418..107864204hg38UCSC Ensembl
chr1:108404040..108406826hg19UCSC Ensembl
chr1:108205563..108208349hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382787
hg192787
hg182787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547350, nsv547353
Samples
Known GenesVAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv473n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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