A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517066



Internal ID15097673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53006394..53340722hg38UCSC Ensembl
Innerchr12:53400178..53734506hg19UCSC Ensembl
Innerchr12:51686445..52020773hg18UCSC Ensembl
Innerchr12:51686445..52020773hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38334329
hg19334329
hg18334329
hg17334329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689893, nssv692890, nssv653279, nssv655026, nssv663755, nssv663667, nssv655358, nssv674334, nssv669794, nssv670606, nssv652339, nssv657807, nssv674194, nssv652857, nssv661533, nssv681824, nssv699709, nssv661140, nssv691076, nssv683336, nssv693629, nssv682223, nssv670952, nssv658412, nssv662487, nssv653723, nssv667423, nssv675597, nssv657233, nssv693430, nssv657491, nssv679753, nssv684821, nssv665557, nssv694517, nssv691972, nssv692446, nssv668331, nssv687149, nssv660173, nssv692422, nssv672368, nssv677764, nssv667936, nssv677722, nssv703541, nssv666122, nssv669550, nssv672758
Samples
Known GenesAAAS, C12orf10, CSAD, EIF4B, ESPL1, IGFBP6, ITGB7, LOC283335, MFSD5, MIR6757, PFDN5, RARG, SOAT2, SP7, SPRYD3, TENC1, ZNF740
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517066
Frequency
Sample Size2026
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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