A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5782n54



Internal ID18997958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76384705..76385756hg38UCSC Ensembl
chr17:74380786..74381837hg19UCSC Ensembl
chr17:71892381..71893432hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381052
hg191052
hg181052
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv576058, nsv576060, nsv576059
Samples
Known GenesSPHK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5782n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss4
Observed Complex0
Frequencyn/a


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