A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12773n54



Internal ID20146197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:78031325..78032496hg38UCSC Ensembl
chr9:80646241..80647412hg19UCSC Ensembl
chr9:79836061..79837232hg18UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381172
hg191172
hg181172
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv614742, nsv614744
Samples
Known GenesGNAQ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12773n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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