A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517038



Internal ID8411313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104680242..104844912hg38UCSC Ensembl
Innerchr14:105146579..105311249hg19UCSC Ensembl
Innerchr14:104217624..104382294hg18UCSC Ensembl
Innerchr14:104217624..104382294hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38164671
hg19164671
hg18164671
hg17164671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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, LINC00638, SIVA1, ZBTB42
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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