A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516385



Internal ID15443678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35025434..35571488hg38UCSC Ensembl
Innerchr16:34259805..34805859hg19UCSC Ensembl
Innerchr16:34117306..34663360hg18UCSC Ensembl
Innerchr16:34117306..34663360hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38546055
hg19546055
hg18546055
hg17546055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663828, nssv684782, nssv654387, nssv688006, nssv682766, nssv664481, nssv665546, nssv660408, nssv658428, nssv666693, nssv678894, nssv684252, nssv661560, nssv690775, nssv685999, nssv681891, nssv673964, nssv684615, nssv653883, nssv660090, nssv664630, nssv665516, nssv688067, nssv683536, nssv663337, nssv677591, nssv655180, nssv672468, nssv672961, nssv652819, nssv672281, nssv668384, nssv681279, nssv666280, nssv657914, nssv652392, nssv668614, nssv661837, nssv659086, nssv663620, nssv653077, nssv692780, nssv675843, nssv672659, nssv651703, nssv652864, nssv671915, nssv676580, nssv652714, nssv677556, nssv670284, nssv665925, nssv691904, nssv684195, nssv680816, nssv681926, nssv693375, nssv662509, nssv689797, nssv689553, nssv683050, nssv691960, nssv663058, nssv657019, nssv674233, nssv683836, nssv687344, nssv658839, nssv663966, nssv677895, nssv682045, nssv677984, nssv668631, nssv674365, nssv670752, nssv689842, nssv672133, nssv659243, nssv666752, nssv680407, nssv691581, nssv688634, nssv677339, nssv682082, nssv679169, nssv693689, nssv689262, nssv685243, nssv656727, nssv655879, nssv662341, nssv682827, nssv661981, nssv674214, nssv691142, nssv669684, nssv689604, nssv672391, nssv673669, nssv658297, nssv659034, nssv667894, nssv679254, nssv676607, nssv652687, nssv654174, nssv673749, nssv660397, nssv657415, nssv680275, nssv673236, nssv668828, nssv668269, nssv667226, nssv673065, nssv681938, nssv677961, nssv678258, nssv671825, nssv666670, nssv659380, nssv676296, nssv691077, nssv682925
Samples
Known GenesLOC100130700, LOC146481, LOC283914, UBE2MP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516385
Frequency
Sample Size2026
Observed Gain124
Observed Loss0
Observed Complex0
Frequencyn/a


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