A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12935n54



Internal ID22780830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133428911..133429681hg38UCSC Ensembl
chr9:136294031..136294801hg19UCSC Ensembl
chr9:135283852..135284622hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38771
hg19771
hg18771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615633, nsv615629, nsv615631
Samples
Known GenesADAMTS13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12935n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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