A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3084n54



Internal ID20136508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:22925582..24378278hg38UCSC Ensembl
chr13:23499721..24952416hg19UCSC Ensembl
chr13:22397721..23850416hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381452697
hg191452696
hg181452696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561285, nsv561332, nsv561291, nsv561284, nsv561333, nsv561286, nsv561289
SamplesNINDS_72
Known GenesANKRD20A19P, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3084n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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