A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv587692

Internal ID

16028415

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr21:43550456..43553303	hg38	UCSC Ensembl
Inner	chr21:44970337..44973184	hg19	UCSC Ensembl
Inner	chr21:43794765..43797612	hg18	UCSC Ensembl

Cytoband

21q22.3

Allele length

Assembly	Allele length
hg38	2848
hg19	2848
hg18	2848

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv947608, nssv947756, nssv947658, nssv947840, nssv947505, nssv947634, nssv947486, nssv947498, nssv947536, nssv947539, nssv947557, nssv947788, nssv947686, nssv947530, nssv947891, nssv947499, nssv947568, nssv947561, nssv947883, nssv947610, nssv947641, nssv947551, nssv947601, nssv947814, nssv947898, nssv947573, nssv947739, nssv947447, nssv947850, nssv947448, nssv947820, nssv947584, nssv947823, nssv947818, nssv947689, nssv947471, nssv947842, nssv947582, nssv947517, nssv947602, nssv947712, nssv947647, nssv947843, nssv947639, nssv947812, nssv947772, nssv947703, nssv947885, nssv947489, nssv947759, nssv947666, nssv947745, nssv947744, nssv947450, nssv947502, nssv947555, nssv947815, nssv947599, nssv947727, nssv947504, nssv947616, nssv947618, nssv947852, nssv947592, nssv947470, nssv947512, nssv947809, nssv947774, nssv947810, nssv947878, nssv947701, nssv947507, nssv947629, nssv947651, nssv947525, nssv947789, nssv947697, nssv947754, nssv947482, nssv947792, nssv947705, nssv947510, nssv947665, nssv947676, nssv947721, nssv947472, nssv947484, nssv947468, nssv947466, nssv947838, nssv947635, nssv947844, nssv947670, nssv947673, nssv947559, nssv947767, nssv947627, nssv947495, nssv947711, nssv947869, nssv947677, nssv947496, nssv947497, nssv947546, nssv947700, nssv947790, nssv947887, nssv947833, nssv947554, nssv947722, nssv947728, nssv947837, nssv947736, nssv947864, nssv947654, nssv947564, nssv947508, nssv947802, nssv947897, nssv947548, nssv947799, nssv947558, nssv947596, nssv947547, nssv947834, nssv947535, nssv947783, nssv947884, nssv947446, nssv947780, nssv947821, nssv947707, nssv947743, nssv947895, nssv947747, nssv947566, nssv947893, nssv947473, nssv947762, nssv947590, nssv947604, nssv947619, nssv947704, nssv947459, nssv947685, nssv947669, nssv947797, nssv947800, nssv947668, nssv947877, nssv947481, nssv947804, nssv947607, nssv947871, nssv947822, nssv947808, nssv947464, nssv947667, nssv947781, nssv947847, nssv947827, nssv947723, nssv947597, nssv947769, nssv947563, nssv947872, nssv947708, nssv947853, nssv947771, nssv947485, nssv947527, nssv947560, nssv947817, nssv947857, nssv947465, nssv947516, nssv947870, nssv947740, nssv947575, nssv947586, nssv947786, nssv947656, nssv947719, nssv947766, nssv947880, nssv947500, nssv947553, nssv947603, nssv947462, nssv947579, nssv947889, nssv947455, nssv947494, nssv947901, nssv947528, nssv947671, nssv947476, nssv947626, nssv947806, nssv947734, nssv947836, nssv947859, nssv947873, nssv947609, nssv947777, nssv947562, nssv947595, nssv947648, nssv947692, nssv947469, nssv947571, nssv947733, nssv947640, nssv947531, nssv947572, nssv947581, nssv947620, nssv947451, nssv947583, nssv947501, nssv947816, nssv947830, nssv947868, nssv947894, nssv947760, nssv947663, nssv947725, nssv947509, nssv947695, nssv947732, nssv947899, nssv947717, nssv947775, nssv947832, nssv947758, nssv947506, nssv947534, nssv947791, nssv947706, nssv947778, nssv947787, nssv947835, nssv947861, nssv947646, nssv947846, nssv947801, nssv947819, nssv947672, nssv947782, nssv947839, nssv947748, nssv947513, nssv947649, nssv947798, nssv947718, nssv947882, nssv947493, nssv947577, nssv947862, nssv947600, nssv947613, nssv947679, nssv947828, nssv947753, nssv947755, nssv947879, nssv947903, nssv947710, nssv947549, nssv947768, nssv947653, nssv947567, nssv947900, nssv947521, nssv947645, nssv947537, nssv947611, nssv947478, nssv947578, nssv947785, nssv947589, nssv947491, nssv947779, nssv947515, nssv947825, nssv947523, nssv947831, nssv947467, nssv947659, nssv947848, nssv947890, nssv947650, nssv947693, nssv947715, nssv947518, nssv947475, nssv947661, nssv947841, nssv947702, nssv947896, nssv947576, nssv947628, nssv947479, nssv947763, nssv947585, nssv947881, nssv947442, nssv947445, nssv947588, nssv947449, nssv947488, nssv947874, nssv947698, nssv947902, nssv947773, nssv947622, nssv947735, nssv947638, nssv947556, nssv947688, nssv947764, nssv947741, nssv947458, nssv947738, nssv947487, nssv947855, nssv947793, nssv947642, nssv947811, nssv947456, nssv947569, nssv947477, nssv947757, nssv947524, nssv947680, nssv947784, nssv947591, nssv947519, nssv947606, nssv947876, nssv947542, nssv947625, nssv947761, nssv947457, nssv947749, nssv947615, nssv947444, nssv947729, nssv947824, nssv947454, nssv947867, nssv947540, nssv947805, nssv947503, nssv947541, nssv947632, nssv947714, nssv947681, nssv947713, nssv947746, nssv947529, nssv947621, nssv947633, nssv947614, nssv947856, nssv947511, nssv947605, nssv947533, nssv947453, nssv947690, nssv947687, nssv947580, nssv947770, nssv947807, nssv947866, nssv947643, nssv947664, nssv947724, nssv947631, nssv947644, nssv947565, nssv947851, nssv947699, nssv947480, nssv947483, nssv947691, nssv947860, nssv947520, nssv947594, nssv947587, nssv947803, nssv947461, nssv947865, nssv947709, nssv947545, nssv947452, nssv947574, nssv947660, nssv947623, nssv947730, nssv947829, nssv947684, nssv947716, nssv947544, nssv947794, nssv947813, nssv947678, nssv947538, nssv947652, nssv947726, nssv947863, nssv947720, nssv947543, nssv947624, nssv947490, nssv947552, nssv947657, nssv947674, nssv947617, nssv947875, nssv947888, nssv947826, nssv947694, nssv947849, nssv947550, nssv947858, nssv947683, nssv947731, nssv947514, nssv947750, nssv947598, nssv947526, nssv947765, nssv947796, nssv947795, nssv947854, nssv947612, nssv947460, nssv947570, nssv947682, nssv947752, nssv947593, nssv947636, nssv947637, nssv947463, nssv947776, nssv947886, nssv947892, nssv947742, nssv947655, nssv947662, nssv947737, nssv947474, nssv947443, nssv947630, nssv947492, nssv947845, nssv947522, nssv947675, nssv947696, nssv947532, nssv947751

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	5
Observed Loss	457
Observed Complex	0
Frequency	n/a