A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8339n54



Internal ID22776234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58491655..58492569hg38UCSC Ensembl
chr3:58477382..58478296hg19UCSC Ensembl
chr3:58452422..58453336hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38915
hg19915
hg18915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590375, nsv590378
Samples
Known GenesKCTD6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8339n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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