A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12720n54



Internal ID22780615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:67075387..67204336hg38UCSC Ensembl
chr9:43702342..43831337hg19UCSC Ensembl
chr9:43642338..43771333hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38128950
hg19128996
hg18128996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv614438, nsv614446, nsv614444, nsv614442, nsv614441
Samples
Known GenesCNTNAP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12720n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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