A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4456n54



Internal ID20137880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:32604149..34557061hg38UCSC Ensembl
chr15:32896350..34849262hg19UCSC Ensembl
chr15:30683642..32636554hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg381952913
hg191952913
hg181952913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv568910, nsv568914
Samples
Known GenesARHGAP11A, AVEN, CHRM5, EMC4, EMC7, FMN1, GOLGA8A, GOLGA8B, GOLGA8R, GREM1, KATNBL1, LOC100131315, LPCAT4, MIR1233-1, MIR1233-2, NOP10, NUTM1, PGBD4, RYR3, SCG5, SLC12A6, TMCO5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4456n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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