A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4525n54



Internal ID20137949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:50478671..50897510hg38UCSC Ensembl
chr15:50770868..51189707hg19UCSC Ensembl
chr15:48558160..48976999hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38418840
hg19418840
hg18418840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv569397, nsv569396
SamplesHGDP00614, HGDP00615
Known GenesSPPL2A, TRPM7, USP50, USP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4525n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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