A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5478n54



Internal ID20138902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16784966..16815401hg38UCSC Ensembl
chr17:16688280..16718715hg19UCSC Ensembl
chr17:16629005..16659440hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3830436
hg1930436
hg1830436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574505, nsv574504
Samples
Known GenesFAM106CP, USP32P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5478n54
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