A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12488n54



Internal ID20145912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:6620059..6750556hg38UCSC Ensembl
chr9:6620059..6750556hg19UCSC Ensembl
chr9:6610059..6740556hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38130498
hg19130498
hg18130498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv613210, nsv613209
Samples
Known GenesGLDC, KDM4C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12488n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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