A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562930



Internal ID16350339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99086152..99087359hg38UCSC Ensembl
Innerchr13:99738406..99739613hg19UCSC Ensembl
Innerchr13:98536407..98537614hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381208
hg191208
hg181208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3359n54
Supporting Variantsnssv818087
Samples
Known GenesDOCK9, DOCK9-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562930
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