A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4318n54



Internal ID20137742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22567965..23122763hg38UCSC Ensembl
chr15:22750305..23305131hg19UCSC Ensembl
chr15:20301669..20856572hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38554799
hg19554827
hg18554904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv568244, nsv568227, nsv568256, nsv568248, nsv568254, nsv568253, nsv568224, nsv568228
Samples
Known GenesCYFIP1, GOLGA8I, HERC2P2, LOC283683, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4318n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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