A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1041140

Internal ID

18783671

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:2136684..2149228	hg38	UCSC Ensembl
Inner	chr12:2245850..2258394	hg19	UCSC Ensembl
Inner	chr12:2116111..2128655	hg18	UCSC Ensembl

Cytoband

12p13.33

Allele length

Assembly	Allele length
hg38	12545
hg19	12545
hg18	12545

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3711685, nssv3506477, nssv3506756, nssv3519217, nssv3507582, nssv3708014, nssv3517605, nssv3707976, nssv3708013, nssv3509760, nssv3512099, nssv3520866, nssv3519517, nssv3521242, nssv3711689, nssv3516172, nssv3509682, nssv3506777, nssv3505387, nssv3502947, nssv3514633, nssv3509773, nssv3514025, nssv3516762, nssv3510085, nssv3522271, nssv3504823, nssv3708038, nssv3510245, nssv3708020, nssv3508179, nssv3707998, nssv3515004, nssv3509994, nssv3507501, nssv3520742, nssv3512432, nssv3521185, nssv3519638, nssv3708050, nssv3708015, nssv3506145, nssv3711688, nssv3517175, nssv3707977, nssv3505922, nssv3505283, nssv3512620, nssv3708001, nssv3506877, nssv3506133, nssv3707974, nssv3515076, nssv3517542, nssv3510209, nssv3514178, nssv3508763, nssv3521205, nssv3510359, nssv3708005, nssv3711691, nssv3518902, nssv3520817, nssv3711684, nssv3517871, nssv3511838, nssv3514253, nssv3516399, nssv3512931, nssv3708012, nssv3507993, nssv3503127, nssv3517111, nssv3519709, nssv3515221, nssv3503795, nssv3505935, nssv3516525, nssv3708045, nssv3514323, nssv3513386, nssv3507049, nssv3504670, nssv3519753, nssv3508825, nssv3708040, nssv3707982, nssv3512648, nssv3504282, nssv3515424, nssv3511593, nssv3514432, nssv3509728, nssv3708019, nssv3513306, nssv3522389, nssv3520295, nssv3520142, nssv3708048, nssv3502972, nssv3509602, nssv3708000, nssv3707995, nssv3514036, nssv3506096, nssv3708031, nssv3505210, nssv3517765, nssv3512364, nssv3514024, nssv3518792, nssv3505615, nssv3519807, nssv3707993, nssv3510689, nssv3521836, nssv3513172, nssv3513966, nssv3707985, nssv3708017, nssv3707978, nssv3707975, nssv3513038, nssv3514939, nssv3504348, nssv3708003, nssv3509561, nssv3708033, nssv3515777, nssv3509213, nssv3708034, nssv3521779, nssv3708030, nssv3711686, nssv3510333, nssv3507305, nssv3515423, nssv3506617, nssv3708009, nssv3707999, nssv3512068, nssv3510821, nssv3508770, nssv3708022, nssv3711683, nssv3510002, nssv3708042, nssv3511343, nssv3522359, nssv3506898, nssv3515549, nssv3512580, nssv3516449, nssv3509834, nssv3508725, nssv3516494, nssv3508901, nssv3505044, nssv3504830, nssv3513693, nssv3505503, nssv3521672, nssv3516850, nssv3505296, nssv3508071, nssv3512725, nssv3516155, nssv3519337, nssv3515773, nssv3519542, nssv3707988, nssv3708016, nssv3708007, nssv3711687, nssv3512579, nssv3708043, nssv3519537, nssv3518503, nssv3507608, nssv3707990, nssv3515657, nssv3515097, nssv3519004, nssv3711679, nssv3512383, nssv3505120, nssv3708024, nssv3707996, nssv3511594, nssv3508343, nssv3503996, nssv3504197, nssv3521969, nssv3519594, nssv3708002, nssv3516410, nssv3708023, nssv3522100, nssv3519938, nssv3707992, nssv3517120, nssv3707989, nssv3511970, nssv3515802, nssv3514251, nssv3504950, nssv3708041, nssv3522367, nssv3505519, nssv3513226, nssv3513656, nssv3707987, nssv3519003, nssv3517183, nssv3504424, nssv3711681, nssv3506408, nssv3519329, nssv3708026, nssv3505570, nssv3513115, nssv3509658, nssv3505214, nssv3515587, nssv3708018, nssv3505221, nssv3517570, nssv3521708, nssv3503988, nssv3707997, nssv3515937, nssv3707983, nssv3708047, nssv3505082, nssv3708021, nssv3506991, nssv3522597, nssv3512255, nssv3707980, nssv3508667, nssv3521192, nssv3506084, nssv3516031, nssv3503117, nssv3520257, nssv3505424, nssv3506037, nssv3708039, nssv3708036, nssv3708027, nssv3522694, nssv3515104, nssv3516880, nssv3508535, nssv3522449, nssv3521234, nssv3509686, nssv3708025, nssv3520488, nssv3707972, nssv3515759, nssv3519515, nssv3511999, nssv3509678, nssv3513365, nssv3509544, nssv3707981, nssv3515150, nssv3508727, nssv3505072, nssv3519462, nssv3513557, nssv3519386, nssv3520256, nssv3516238, nssv3519124, nssv3708011, nssv3516717, nssv3519848, nssv3509483, nssv3516111, nssv3514407, nssv3511998, nssv3711680, nssv3516074, nssv3708029, nssv3708028, nssv3707994, nssv3514454, nssv3508814, nssv3707986, nssv3509055, nssv3506602, nssv3707984, nssv3510386, nssv3504476, nssv3517351, nssv3504918, nssv3512715, nssv3707973, nssv3708046, nssv3522008, nssv3503056, nssv3708006, nssv3513843, nssv3507534, nssv3505694, nssv3513332, nssv3506106, nssv3518096, nssv3514838, nssv3521177, nssv3516799, nssv3514538, nssv3510116, nssv3514265, nssv3503153, nssv3512623, nssv3509100, nssv3509632, nssv3515555, nssv3514462, nssv3711690, nssv3708008, nssv3511010, nssv3507043, nssv3505002, nssv3520147, nssv3708049, nssv3507838, nssv3521585, nssv3507952, nssv3517098, nssv3517561, nssv3511119, nssv3708032, nssv3707979, nssv3521599, nssv3521460, nssv3504972, nssv3521420, nssv3514108, nssv3504832, nssv3511324, nssv3502957, nssv3707991, nssv3512863, nssv3503401, nssv3520308, nssv3508421, nssv3513758, nssv3510739, nssv3503611, nssv3514606, nssv3516126, nssv3516305, nssv3509893, nssv3506897, nssv3506822, nssv3708037, nssv3518446, nssv3506870, nssv3514877, nssv3510587, nssv3510138, nssv3502997, nssv3708035, nssv3711682, nssv3518509, nssv3506629, nssv3512631, nssv3512745, nssv3708044, nssv3518827, nssv3514570, nssv3520073, nssv3516330, nssv3519002, nssv3510839, nssv3508532, nssv3507613, nssv3511235, nssv3520790, nssv3503275, nssv3708010, nssv3708004, nssv3506531, nssv3517771, nssv3516881, nssv3515667

Samples

Known Genes

Method

SNP array

Analysis

Affymetrix SNP array copy number analysis

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Coe_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	29084
Observed Gain	0
Observed Loss	390
Observed Complex	0
Frequency	n/a