A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517038



Internal ID6014734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105146579..105311249hg19UCSC Ensembl
Innerchr14:104217624..104382294hg18UCSC Ensembl
Innerchr14:104217624..104382294hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv665146, nssv671686, nssv658063, nssv666748, nssv698441, nssv689114, nssv684522, nssv692028, nssv680209, nssv670065, nssv659524, nssv684221, nssv686334, nssv691845, nssv655649, nssv659739, nssv661941, nssv692278, nssv674504, nssv673434, nssv689719, nssv658107, nssv663169, nssv658296, nssv689305, nssv677555, nssv685811, nssv653661, nssv691045
Samples
Known GenesADSSL1, AKT1, INF2, MGC23270, SIVA1, ZBTB42
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv517038
Frequency
Sample Size2026
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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