A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv590217

Internal ID

16030940

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:47449222..47451848	hg38	UCSC Ensembl
Inner	chr3:47490712..47493338	hg19	UCSC Ensembl
Inner	chr3:47465716..47468342	hg18	UCSC Ensembl

Cytoband

3p21.31

Allele length

Assembly	Allele length
hg38	2627
hg19	2627
hg18	2627

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv962889, nssv962786, nssv962634, nssv962627, nssv962938, nssv962833, nssv962869, nssv962804, nssv962630, nssv962922, nssv962835, nssv962705, nssv962921, nssv962813, nssv962756, nssv962821, nssv962693, nssv962838, nssv962952, nssv962776, nssv962697, nssv962862, nssv962797, nssv962735, nssv962766, nssv962746, nssv962949, nssv962928, nssv962718, nssv962691, nssv962629, nssv962773, nssv962680, nssv962658, nssv962944, nssv962751, nssv962939, nssv962631, nssv962682, nssv962678, nssv962900, nssv962787, nssv962795, nssv962734, nssv962902, nssv962951, nssv962898, nssv962913, nssv962863, nssv962815, nssv962882, nssv962796, nssv962725, nssv962932, nssv962651, nssv962763, nssv962875, nssv962692, nssv962934, nssv962745, nssv962808, nssv962774, nssv962685, nssv962907, nssv962942, nssv962878, nssv962741, nssv962824, nssv962908, nssv962645, nssv962628, nssv962933, nssv962727, nssv962899, nssv962948, nssv962701, nssv962781, nssv962920, nssv962818, nssv962954, nssv962936, nssv962711, nssv962698, nssv962770, nssv962654, nssv962788, nssv962894, nssv962706, nssv962744, nssv962901, nssv962832, nssv962754, nssv962660, nssv962768, nssv962669, nssv962926, nssv962820, nssv962672, nssv962689, nssv962636, nssv962881, nssv962690, nssv962937, nssv962757, nssv962876, nssv962662, nssv962947, nssv962729, nssv962856, nssv962841, nssv962784, nssv962743, nssv962652, nssv962736, nssv962872, nssv962802, nssv962671, nssv962870, nssv962842, nssv962637, nssv962805, nssv962924, nssv962884, nssv962656, nssv962950, nssv962635, nssv962877, nssv962810, nssv962803, nssv962699, nssv962714, nssv962925, nssv962728, nssv962846, nssv962845, nssv962831, nssv962867, nssv962732, nssv962731, nssv962791, nssv962721, nssv962687, nssv962888, nssv962851, nssv962893, nssv962750, nssv962646, nssv962892, nssv962759, nssv962897, nssv962623, nssv962849, nssv962941, nssv962858, nssv962911, nssv962836, nssv962827, nssv962780, nssv962816, nssv962765, nssv962717, nssv962758, nssv962641, nssv962749, nssv962826, nssv962823, nssv962830, nssv962719, nssv962638, nssv962904, nssv962688, nssv962811, nssv962807, nssv962874, nssv962848, nssv962619, nssv962814, nssv962800, nssv962910, nssv962738, nssv962621, nssv962903, nssv962794, nssv962649, nssv962890, nssv962724, nssv962722, nssv962617, nssv962708, nssv962643, nssv962887, nssv962686, nssv962710, nssv962663, nssv962779, nssv962620, nssv962834, nssv962740, nssv962668, nssv962769, nssv962716, nssv962935, nssv962801, nssv962871, nssv962674, nssv962670, nssv962847, nssv962713, nssv962700, nssv962650, nssv962912, nssv962905, nssv962684, nssv962853, nssv962789, nssv962622, nssv962864, nssv962812, nssv962739, nssv962806, nssv962702, nssv962854, nssv962726, nssv962723, nssv962761, nssv962940, nssv962837, nssv962752, nssv962677, nssv962828, nssv962655, nssv962633, nssv962866, nssv962792, nssv962793, nssv962730, nssv962626, nssv962785, nssv962661, nssv962873, nssv962822, nssv962696, nssv962632, nssv962695, nssv962809, nssv962914, nssv962737, nssv962843, nssv962840, nssv962748, nssv962676, nssv962931, nssv962917, nssv962930, nssv962694, nssv962885, nssv962673, nssv962664, nssv962653, nssv962624, nssv962648, nssv962915, nssv962880, nssv962742, nssv962709, nssv962667, nssv962929, nssv962916, nssv962886, nssv962707, nssv962767, nssv962644, nssv962712, nssv962817, nssv962733, nssv962675, nssv962946, nssv962642, nssv962850, nssv962825, nssv962895, nssv962891, nssv962798, nssv962659, nssv962883, nssv962775, nssv962762, nssv962896, nssv962720, nssv962764, nssv962879, nssv962755, nssv962790, nssv962953, nssv962772, nssv962945, nssv962857, nssv962906, nssv962844, nssv962819, nssv962703, nssv962747, nssv962618, nssv962927, nssv962868, nssv962829, nssv962918, nssv962704, nssv962666, nssv962782, nssv962861, nssv962778, nssv962859, nssv962639, nssv962919, nssv962909, nssv962855, nssv962647, nssv962865, nssv962640, nssv962715, nssv962771, nssv962683, nssv962839, nssv962777, nssv962923, nssv962753, nssv962665, nssv962943, nssv962760, nssv962852, nssv962799, nssv962860, nssv962679, nssv962681, nssv962657, nssv962783, nssv962625

Samples

Known Genes

Method

SNP array

Analysis

Illumina SNP array copy number analysis

Platform

Not reported

Comments

Reference

Cooper_et_al_2011

Pubmed ID

Accession Number(s)

Frequency

Sample Size	17421
Observed Gain	4
Observed Loss	334
Observed Complex	0
Frequency	n/a