A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9490n54



Internal ID20142914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:473253..474507hg38UCSC Ensembl
chr5:473368..474622hg19UCSC Ensembl
chr5:526368..527622hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381255
hg191255
hg181255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv596684, nsv596683
Samples
Known GenesSLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9490n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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