A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555207



Internal ID15995930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64832530..64853046hg38UCSC Ensembl
Innerchr11:64600002..64620518hg19UCSC Ensembl
Innerchr11:64356578..64377094hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3820517
hg1920517
hg1820517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv777171
Samples
Known GenesCDC42BPG, EHD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555207
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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