Variant Details

Variant: nsv514975

Internal ID

15813334

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:120319754..120323290	hg38	UCSC Ensembl
Inner	chr2:121077330..121080866	hg19	UCSC Ensembl
Inner	chr2:120793800..120797336	hg18	UCSC Ensembl

Cytoband

2q14.2

Allele length

Assembly	Allele length
hg38	3537
hg19	3537
hg18	3537

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv2873889, nssv2873759, nssv2873824, nssv2873741, nssv2873867, nssv2873770, nssv2873854, nssv2873778, nssv2873763, nssv2873749, nssv2873829, nssv2873853, nssv2873798, nssv2873849, nssv2873838, nssv2873805, nssv2873766, nssv2873845, nssv2873796, nssv2873786, nssv2873870, nssv2873818, nssv2873820, nssv2873903, nssv2873815, nssv2873797, nssv2873788, nssv2873860, nssv2873754, nssv2873876, nssv2873851, nssv2873767, nssv2873744, nssv2873832, nssv2873783, nssv2873908, nssv2873843, nssv2873884, nssv2873907, nssv2873775, nssv2873848, nssv2873816, nssv2873878, nssv2873764, nssv2873748, nssv2873882, nssv2873823, nssv2873753, nssv2873746, nssv2873825, nssv2873803, nssv2873742, nssv2873801, nssv2873874, nssv2873781, nssv2873864, nssv2873813, nssv2873809, nssv2873846, nssv2873755, nssv2873827, nssv2873799, nssv2873839, nssv2873800, nssv2873777, nssv2873901, nssv2873772, nssv2873900, nssv2873784, nssv2873892, nssv2873850, nssv2873817, nssv2873872, nssv2873893, nssv2873862, nssv2873866, nssv2873858, nssv2873842, nssv2873895, nssv2873905, nssv2873856, nssv2873811, nssv2873865, nssv2873807, nssv2873758, nssv2873861, nssv2873773, nssv2873747, nssv2873739, nssv2873810, nssv2873904, nssv2873877, nssv2873751, nssv2873789, nssv2873894, nssv2873883, nssv2873802, nssv2873756, nssv2873771, nssv2873852, nssv2873792, nssv2873765, nssv2873790, nssv2873794, nssv2873910, nssv2873841, nssv2873909, nssv2873896, nssv2873743, nssv2873795, nssv2873844, nssv2873837, nssv2873906, nssv2873898, nssv2873830, nssv2873821, nssv2873760, nssv2873868, nssv2873857, nssv2873752, nssv2873761, nssv2873808, nssv2873769, nssv2873863, nssv2873826, nssv2873873, nssv2873847, nssv2873822, nssv2873750, nssv2873899, nssv2873834, nssv2873780, nssv2873879, nssv2873891, nssv2873855, nssv2873890, nssv2873859, nssv2873833, nssv2873782, nssv2873831, nssv2873835, nssv2873779, nssv2873881, nssv2873902, nssv2873887, nssv2873787, nssv2873869, nssv2873828, nssv2873774, nssv2873875, nssv2873806, nssv2873897, nssv2873888, nssv2873886, nssv2873745, nssv2873871, nssv2873791, nssv2873785, nssv2873812, nssv2873814, nssv2873768, nssv2873880, nssv2873793, nssv2873776, nssv2873840, nssv2873762, nssv2873885, nssv2873819, nssv2873757, nssv2873836, nssv2873804, nssv2873740

Samples

NA18620, NA18997, NA18998, NA18497, NA19258, NA19141, NA12717, NA21383, NA18924, NA18621, NA12286, NA10851, NA18524, NA12414, NA18935, NA12843, NA21310, NA19145, NA18999, NA18486, NA12751, NA18545, NA12004, NA12248, NA12146, NA18959, NA10857, NA21360, NA19190, NA19098, NA18870, NA18563, NA19005, NA18550, NA19201, NA10846, NA19119, NA18635, NA18547, NA12348, NA18960, NA18916, NA07048, NA21479, NA19197, NA18582, NA12283, NA18964, NA21391, NA18949, NA12761, NA12282, NA18970, NA11994, NA21453, NA19235, NA19159, NA19189, NA18990, NA10855, NA21601, NA21523, NA19239, NA19209, NA10839, NA21387, NA18975, NA12375, NA18973, NA18867, NA11993, NA11831, NA18605, NA21313, NA19210, NA12760, NA12752, NA12753, NA12343, NA10863, NA19152, NA12878, NA18956, NA18859, NA18991, NA19236, NA18579, NA18871, NA19103, NA18503, NA10838, NA21366, NA19208, NA18907, NA18566, NA21441, NA12818, NA11919, NA19142, NA19000, NA07031, NA12386, NA18875, NA11893, NA19151, NA18499, NA11894, NA10830, NA18930, NA18856, NA12817, NA19257, NA19225, NA12144, NA21583, NA12778, NA18570, NA21316, NA18576, NA21302, NA18953, NA18632, NA11882, NA19183, NA18542, NA06991, NA18909, NA19115, NA19256, NA19147, NA18863, NA12775, NA19140, NA07051, NA10840, NA18869, NA07037, NA12763, NA21361, NA07055, NA21513, NA12347, NA06986, NA18501, NA06994, NA19248, NA21580, NA07435, NA21404, NA19223, NA10843, NA19173, NA19211, NA12329, NA18506, NA19102, NA18873, NA19096, NA21384, NA21312, NA18972, NA21303, NA21490, NA07056, NA21363, NA19129, NA12890, NA18522, NA07034, NA18487, NA18562, NA12776

Known Genes

Method

Oligo aCGH

Analysis

ADM2 threshold = 5

Platform

Agilent Eichler Human CNP 180K v3.0

Comments

Reference

Campbell_et_al_2011

Pubmed ID

21397061

Accession Number(s)

nsv514975

Frequency

Sample Size	2366
Observed Gain	71
Observed Loss	101
Observed Complex	0
Frequency	n/a