A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5347n54



Internal ID20138771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:168571..184412hg38UCSC Ensembl
chr17:18362..34203hg19UCSC Ensembl
chr17:18362..34203hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3815842
hg1915842
hg1815842
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv573892, nsv573870, nsv573882, nsv573865, nsv573884, nsv573883, nsv573880, nsv573895, nsv573869, nsv573885, nsv573887, nsv573888, nsv573878, nsv573879, nsv573894, nsv573893, nsv573881, nsv573877, nsv573886
Samples
Known GenesDOC2B, LOC100506371
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5347n54
Frequency
Sample Size17421
Observed Gain49
Observed Loss0
Observed Complex0
Frequencyn/a


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