A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4522n54



Internal ID20137946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49252995..49257746hg38UCSC Ensembl
chr15:49545192..49549943hg19UCSC Ensembl
chr15:47332484..47337235hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg384752
hg194752
hg184752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv569391, nsv569390, nsv569374, nsv569385
Samples
Known GenesGALK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4522n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer