A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516440



Internal ID15443733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191343425..191355917hg38UCSC Ensembl
Innerchr3:191061214..191073706hg19UCSC Ensembl
Innerchr3:192543908..192556400hg18UCSC Ensembl
Innerchr3:192543916..192556408hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3812493
hg1912493
hg1812493
hg1712493
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675582, nssv674818, nssv663325, nssv690511, nssv653958, nssv691572, nssv674836, nssv673571, nssv693244, nssv670011, nssv688109, nssv687989, nssv676811, nssv683750, nssv675875, nssv654260, nssv665044, nssv653488, nssv674280, nssv681941, nssv669137, nssv693995, nssv664370, nssv655611, nssv654244, nssv652965, nssv691082, nssv662631, nssv666300, nssv665100, nssv685146, nssv664674, nssv678575, nssv674722, nssv656216, nssv675348, nssv681601, nssv688687, nssv673656, nssv690346, nssv652920, nssv672829, nssv655972, nssv654118, nssv685993, nssv688842, nssv680048, nssv687766, nssv682086, nssv679763, nssv679783, nssv691701, nssv666630, nssv656404, nssv675063, nssv683808, nssv655310, nssv683005, nssv655774, nssv663783, nssv653750, nssv683563, nssv682782, nssv679202, nssv660939, nssv675772, nssv668411, nssv657639, nssv678516, nssv672288, nssv688369, nssv668436, nssv693151, nssv670822, nssv654762, nssv679235, nssv684264, nssv675448, nssv684167, nssv661783, nssv662564, nssv658259, nssv667660, nssv664474, nssv657938, nssv664530, nssv683027, nssv659506, nssv693985, nssv673112, nssv684133, nssv668792, nssv681360, nssv675607, nssv652202, nssv652537, nssv683726, nssv673485, nssv677949, nssv684080, nssv686360, nssv683784, nssv692554, nssv661496, nssv660654, nssv680019, nssv677266, nssv666370, nssv689463, nssv656438, nssv678733, nssv671920, nssv661125, nssv658476, nssv688309, nssv666653, nssv683544, nssv687966, nssv692597, nssv684104, nssv672571, nssv658640, nssv692786, nssv653622, nssv687054, nssv671209, nssv678100, nssv672473, nssv659806, nssv653098, nssv658996, nssv657399, nssv674001, nssv653084, nssv658580, nssv684183, nssv674388, nssv686295, nssv674056, nssv679595, nssv667602, nssv679053, nssv692654, nssv686036, nssv685604, nssv666720, nssv653683, nssv665151, nssv671661, nssv688191, nssv687671, nssv692006, nssv686403, nssv692331, nssv686683, nssv662539, nssv690740, nssv678173, nssv688162, nssv661610, nssv693263, nssv680246, nssv680231, nssv687430, nssv663426, nssv656099, nssv674203, nssv662471, nssv679544, nssv677986, nssv658660, nssv675337, nssv669889, nssv659019, nssv689679, nssv672681, nssv680518, nssv674954, nssv662700, nssv659920, nssv688384, nssv656732, nssv652368, nssv677964, nssv670940, nssv675642, nssv686264, nssv691119, nssv692065, nssv677197, nssv666422, nssv680618, nssv661766, nssv683438, nssv682064, nssv673950, nssv651848, nssv664579, nssv663927, nssv653143, nssv691048, nssv684211, nssv658023, nssv676238, nssv692406, nssv671237, nssv652312, nssv675127, nssv660132, nssv690590, nssv678379, nssv670658, nssv670562, nssv663654, nssv679154, nssv659053, nssv682048, nssv672510, nssv669535, nssv688746, nssv680154, nssv680128, nssv681581, nssv656125, nssv660185, nssv673684, nssv661809, nssv681914, nssv680435, nssv673068, nssv654630, nssv687754, nssv686603, nssv688453, nssv686206, nssv670272, nssv679005, nssv669280, nssv683998, nssv681928, nssv672772, nssv674542, nssv687072, nssv678032, nssv704296, nssv663950, nssv667126, nssv658951, nssv685123, nssv679679, nssv661569, nssv687116, nssv687032, nssv662659, nssv687799, nssv675414, nssv676533, nssv689556, nssv655717, nssv653452, nssv675705, nssv658303, nssv655562, nssv665932, nssv663028, nssv691163, nssv693576, nssv658857, nssv671589, nssv665454, nssv668276, nssv673451, nssv681063, nssv678949, nssv662862, nssv652562, nssv655476, nssv676015, nssv658805, nssv656463, nssv660977, nssv652119, nssv670366, nssv688011, nssv661447, nssv658529, nssv665292, nssv674610, nssv664184, nssv672056, nssv660199, nssv686468, nssv693140, nssv671750, nssv670758, nssv693607, nssv663562, nssv678760, nssv682828, nssv667625, nssv657668, nssv689362, nssv677598, nssv684011, nssv668211, nssv672114, nssv667030, nssv669038, nssv687822, nssv681838, nssv691507, nssv686026, nssv673056, nssv656075, nssv683931, nssv671431, nssv658624, nssv672950, nssv660789, nssv668833, nssv671498, nssv693534, nssv678329, nssv658287, nssv668107, nssv686109, nssv664359, nssv666179, nssv673129, nssv691776, nssv684491, nssv693339, nssv664509, nssv685647, nssv692453, nssv675527, nssv659305, nssv671107, nssv667641, nssv676696, nssv670453, nssv687350, nssv655217, nssv681806, nssv679924, nssv663378, nssv666829, nssv658743, nssv653373, nssv689873, nssv675547, nssv657503, nssv682733, nssv679088, nssv671324, nssv652022, nssv660412, nssv653666, nssv687941, nssv681224, nssv686424, nssv653705, nssv690998, nssv686663, nssv676522, nssv655429, nssv680214, nssv667799, nssv689860, nssv678350, nssv693473, nssv659902, nssv689941, nssv655668, nssv671572, nssv660491, nssv679902, nssv659967, nssv680351, nssv665712, nssv668926, nssv662054, nssv659667, nssv682298, nssv655408, nssv656477, nssv690703, nssv670029, nssv662737, nssv684320, nssv656167, nssv672709, nssv679174, nssv673167, nssv660161, nssv692901, nssv691253, nssv688618, nssv681310, nssv679128, nssv653163, nssv665781, nssv652073, nssv691029, nssv676911, nssv689811, nssv685584, nssv668017, nssv663488, nssv668977, nssv654360, nssv687011, nssv676796, nssv688527, nssv689183, nssv691067, nssv673224, nssv681742, nssv684120, nssv670287, nssv691426, nssv678225, nssv686918, nssv663860, nssv657595, nssv689981, nssv673639, nssv660400, nssv668760, nssv653312, nssv676388, nssv679626, nssv693723, nssv667384, nssv678479, nssv659037, nssv655528, nssv662716, nssv694020, nssv690896, nssv666287, nssv655267, nssv660309, nssv687382, nssv661657, nssv651732, nssv665068, nssv659276, nssv682153, nssv689001, nssv681487, nssv654812, nssv679302, nssv671830, nssv692612, nssv651715, nssv680471, nssv675836, nssv660035, nssv682628, nssv664711, nssv662233, nssv697757, nssv685540, nssv654450, nssv662206, nssv682419, nssv668638, nssv675200, nssv666324, nssv659596, nssv687368, nssv677793, nssv677066, nssv666022, nssv666762, nssv677171, nssv659132, nssv657889, nssv666263, nssv684974, nssv675231, nssv678076, nssv656860, nssv663628, nssv675073, nssv687913, nssv678813, nssv666595, nssv678371, nssv658504, nssv684510, nssv679981, nssv682848, nssv675378, nssv674127, nssv659382, nssv660997, nssv690870, nssv677218, nssv689098, nssv659226, nssv657745, nssv655791, nssv652902, nssv668335, nssv654136, nssv678699, nssv661190, nssv677698, nssv691834, nssv691587, nssv653436, nssv673145, nssv686071, nssv662432, nssv678245, nssv668992, nssv692521, nssv670738, nssv661474, nssv658753, nssv684869, nssv682381, nssv655887, nssv659635, nssv652695, nssv677246, nssv663363, nssv655453, nssv676448, nssv678400, nssv659876, nssv691946, nssv659782, nssv687871, nssv664111
Samples
Known GenesCCDC50
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516440
Frequency
Sample Size2026
Observed Gain10
Observed Loss527
Observed Complex0
Frequencyn/a


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