A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4518n54



Internal ID20137942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49252812..49254486hg38UCSC Ensembl
chr15:49545009..49546683hg19UCSC Ensembl
chr15:47332301..47333975hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381675
hg191675
hg181675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv569366, nsv569356, nsv569357, nsv569367, nsv569355
Samples
Known GenesGALK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4518n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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