A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1040n54



Internal ID22768935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:38489106..38861502hg38UCSC Ensembl
chr10:38778034..39154633hg19UCSC Ensembl
chr10:38818040..39194639hg18UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38372397
hg19376600
hg18376600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550434, nsv550477
Samples
Known GenesACTR3BP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1040n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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