A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517180



Internal ID15097787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133402966..133620799hg38UCSC Ensembl
Innerchr10:135216470..135434303hg19UCSC Ensembl
Innerchr10:135066460..135284293hg18UCSC Ensembl
Innerchr10:135105351..135323184hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38217834
hg19217834
hg18217834
hg17217834
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705056, nssv660645, nssv653384, nssv680389, nssv681152, nssv672223, nssv657179, nssv675744, nssv677441, nssv682900, nssv689726, nssv661624, nssv690092, nssv687512, nssv687168, nssv664845, nssv653183, nssv658202, nssv655537, nssv687471, nssv693685, nssv678001, nssv668197, nssv686576, nssv680873, nssv693484, nssv705683, nssv667391, nssv662831, nssv696053, nssv675881, nssv654461, nssv682549, nssv659140, nssv676803, nssv698119, nssv664400, nssv692162, nssv680810, nssv676977, nssv683121, nssv662374, nssv664911, nssv653938, nssv654250, nssv686329, nssv656384, nssv676538, nssv698118, nssv679185, nssv654927, nssv684387, nssv659767, nssv658374, nssv681731, nssv683362, nssv681572, nssv686523, nssv681949, nssv672413, nssv703735, nssv690435, nssv666409, nssv677078, nssv675556, nssv684792, nssv689283, nssv705057, nssv670577, nssv660322, nssv659464, nssv667440, nssv657963, nssv687837, nssv678782, nssv655823, nssv686238, nssv691290, nssv671012, nssv691469, nssv703733, nssv678183, nssv666012, nssv663056, nssv658060, nssv687435, nssv652615, nssv668289, nssv690928, nssv691097, nssv682724, nssv675251, nssv692592, nssv653363, nssv657035, nssv678719, nssv662446, nssv658277, nssv653402, nssv660580
Samples
Known GenesCYP2E1, MTG1, SCART1, SPRN, SPRNP1, SYCE1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517180
Frequency
Sample Size2026
Observed Gain95
Observed Loss5
Observed Complex0
Frequencyn/a


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