A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1259n54



Internal ID20134683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70689458..70690945hg38UCSC Ensembl
chr10:72449214..72450701hg19UCSC Ensembl
chr10:72119220..72120707hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381488
hg191488
hg181488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv551488, nsv551483
Samples
Known GenesADAMTS14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1259n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss117
Observed Complex0
Frequencyn/a


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