A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561862



Internal ID16002585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60009783..60049569hg38UCSC Ensembl
Innerchr13:60583917..60623703hg19UCSC Ensembl
Innerchr13:59481918..59521704hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3839787
hg1939787
hg1839787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv812336
Samples
Known GenesDIAPH3, DIAPH3-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561862
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