A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12976n54



Internal ID22780871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134654013..134655122hg38UCSC Ensembl
chr9:137545859..137546968hg19UCSC Ensembl
chr9:136685680..136686789hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381110
hg191110
hg181110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615833, nsv615834, nsv615831
Samples
Known GenesCOL5A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12976n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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