A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521217



Internal ID6022146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88872229..89240783hg19UCSC Ensembl
Innerchr16:87399730..87768284hg18UCSC Ensembl
Innerchr16:87399730..87768284hg17UCSC Ensembl
Cytoband16q24.3
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 Variantsnssv697850
Samples
Known GenesACSF3, APRT, CBFA2T3, CDH15, CDT1, GALNS, LINC00304, PABPN1L, TRAPPC2L
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)nsv521217
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