A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598694



Internal ID16039417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77210072..77211250hg38UCSC Ensembl
Innerchr5:76505897..76507075hg19UCSC Ensembl
Innerchr5:76541653..76542831hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381179
hg191179
hg181179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9887n54
Supporting Variantsnssv1035156
Samples
Known GenesPDE8B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598694
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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