A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523599



Internal ID8417874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:27636164..27637443hg38UCSC Ensembl
Innerchr13:28210301..28211580hg19UCSC Ensembl
Innerchr13:27108301..27109580hg18UCSC Ensembl
Innerchr13:27108301..27109580hg17UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg381280
hg191280
hg181280
hg171280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699391
Samples
Known GenesPOLR1D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523599
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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