A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555290



Internal ID16342699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:68460324..68461118hg38UCSC Ensembl
Innerchr11:68227792..68228586hg19UCSC Ensembl
Innerchr11:67984368..67985162hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38795
hg19795
hg18795
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv778624, nssv778625, nssv778623
Samples
Known GenesPPP6R3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555290
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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