A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3348n54



Internal ID20136772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98576197..98577597hg38UCSC Ensembl
chr13:99228451..99229851hg19UCSC Ensembl
chr13:98026452..98027852hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381401
hg191401
hg181401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv562892, nsv562896, nsv562883, nsv562879, nsv562895, nsv562897, nsv562884
Samples
Known GenesSTK24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3348n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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