A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12859n54



Internal ID22780754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114193988..114696195hg38UCSC Ensembl
chr9:116956268..117458475hg19UCSC Ensembl
chr9:115996089..116498296hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38502208
hg19502208
hg18502208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615236, nsv615234, nsv615235, nsv615237, nsv615238
SamplesNINDS_192, NINDS_133
Known GenesAKNA, ATP6V1G1, C9orf91, COL27A1, DFNB31, LOC100505478, MIR455, ORM1, ORM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12859n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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