A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523599



Internal ID6016301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:28210301..28211580hg19UCSC Ensembl
Innerchr13:27108301..27109580hg18UCSC Ensembl
Innerchr13:27108301..27109580hg17UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv699391
Samples
Known GenesPOLR1D
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv523599
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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