A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527458



Internal ID6016881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92441066..92525471hg19UCSC Ensembl
Innerchr14:91510819..91595224hg18UCSC Ensembl
Innerchr14:91510819..91595224hg17UCSC Ensembl
Cytoband14q32.12
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 Variantsnssv703900
Samples
Known GenesATXN3, TRIP11
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)nsv527458
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