A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600346



Internal ID16041069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176597879..176669235hg38UCSC Ensembl
Innerchr5:176024880..176096236hg19UCSC Ensembl
Innerchr5:175957486..176028842hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3871357
hg1971357
hg1871357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045690
Samples
Known GenesEIF4E1B, GPRIN1, MIR4281, SNCB, TSPAN17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600346
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