A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517196



Internal ID15097803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1729694..1844960hg38UCSC Ensembl
Innerchr16:1779695..1894961hg19UCSC Ensembl
Innerchr16:1719696..1834962hg18UCSC Ensembl
Innerchr16:1719696..1834962hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38115267
hg19115267
hg18115267
hg17115267
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691978, nssv671048, nssv683888, nssv699767, nssv675432, nssv657135, nssv671518, nssv657000, nssv677941, nssv661536, nssv684524, nssv651814, nssv674587, nssv665265, nssv684046, nssv679379, nssv661836, nssv668951, nssv674874, nssv697764, nssv686762, nssv653697, nssv662076, nssv656208, nssv684568, nssv659498, nssv664381, nssv657714, nssv671049, nssv684352, nssv675307, nssv705572, nssv666751, nssv683074, nssv663797, nssv655361, nssv661603, nssv662404, nssv702662, nssv691450
Samples
Known GenesEME2, FAHD1, HAGH, IGFALS, MAPK8IP3, MEIOB, MIR3177, MRPS34, NME3, NUBP2, SPSB3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517196
Frequency
Sample Size2026
Observed Gain13
Observed Loss28
Observed Complex0
Frequencyn/a


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