A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515224



Internal ID15813581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:95760801..95891793hg38UCSC Ensembl
InnerchrX:95015800..95146792hg19UCSC Ensembl
InnerchrX:94902456..95033448hg18UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg38130993
hg19130993
hg18130993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2994908, nssv2994997, nssv2994868, nssv2994986, nssv2995013, nssv2995027, nssv2994937, nssv2995021, nssv2994985, nssv2994981, nssv2994974, nssv2994925, nssv2994807, nssv2994852, nssv2994970, nssv2994929, nssv2994893, nssv2994838, nssv2994906, nssv2994945, nssv2994976, nssv2994957, nssv2995006, nssv2994862, nssv2994983, nssv2994973, nssv2995049, nssv2994880, nssv2994939, nssv2995002, nssv2994901, nssv2995039, nssv2994932, nssv2994935, nssv2994870, nssv2994968, nssv2994806, nssv2994960, nssv2995010, nssv2995032, nssv2994902, nssv2994846, nssv2994802, nssv2994834, nssv2994809, nssv2995030, nssv2994913, nssv2994858, nssv2995044, nssv2994971, nssv2994979, nssv2995017, nssv2995043, nssv2995040, nssv2995036, nssv2994921, nssv2995014, nssv2994903, nssv2994867, nssv2995047, nssv2995005, nssv2994805, nssv2995053, nssv2994955, nssv2994821, nssv2994918, nssv2994944, nssv2994839, nssv2994883, nssv2995016, nssv2994853, nssv2994825, nssv2994879, nssv2995022, nssv2995015, nssv2995025, nssv2994857, nssv2994845, nssv2994828, nssv2994989, nssv2994975, nssv2994859, nssv2994954, nssv2994898, nssv2994888, nssv2994871, nssv2994948, nssv2994892, nssv2994849, nssv2994907, nssv2995009, nssv2994905, nssv2994964, nssv2994876, nssv2995007, nssv2994814, nssv2994940, nssv2995020, nssv2994923, nssv2994910, nssv2994865, nssv2995031, nssv2994943, nssv2995024, nssv2994951, nssv2995052, nssv2995035, nssv2994962, nssv2994912, nssv2995003, nssv2994873, nssv2994804, nssv2995004, nssv2994843, nssv2994924, nssv2994831, nssv2994947, nssv2994840, nssv2994832, nssv2994819, nssv2994922, nssv2994823, nssv2994842, nssv2994927, nssv2994998, nssv2994956, nssv2994860, nssv2995018, nssv2994952, nssv2994982, nssv2994967, nssv2994938, nssv2994886, nssv2994830, nssv2994995, nssv2994993, nssv2994884, nssv2994977, nssv2994969, nssv2994919, nssv2995048, nssv2994959, nssv2994958, nssv2994904, nssv2994996, nssv2994861, nssv2994978, nssv2995038, nssv2994966, nssv2994829, nssv2994812, nssv2994991, nssv2994835, nssv2994990, nssv2994866, nssv2995033, nssv2994909, nssv2994896, nssv2994881, nssv2995026, nssv2994920, nssv2994818, nssv2994915, nssv2995051, nssv2994827, nssv2995028, nssv2994895, nssv2994844, nssv2994934, nssv2994872, nssv2994808, nssv2994816, nssv2994815, nssv2994931, nssv2994914, nssv2995023, nssv2994878, nssv2994936, nssv2994933, nssv2994822, nssv2994851, nssv2994950, nssv2994890, nssv2995046, nssv2994942, nssv2995019, nssv2995011, nssv2994930, nssv2995041, nssv2994850, nssv2994899, nssv2994889, nssv2994826, nssv2994926, nssv2994855, nssv2994946, nssv2994887, nssv2994820, nssv2994928, nssv2994836, nssv2994810, nssv2994833, nssv2994953, nssv2994980, nssv2994999, nssv2994869, nssv2994911, nssv2994811, nssv2994891, nssv2994987, nssv2994916, nssv2994992, nssv2994984, nssv2994965, nssv2994949, nssv2994972, nssv2994864, nssv2994856, nssv2994863, nssv2995037, nssv2995050, nssv2994994, nssv2994882, nssv2994847, nssv2994894, nssv2994885, nssv2994848, nssv2995029, nssv2995000, nssv2995001, nssv2994941, nssv2994817, nssv2994803, nssv2995008, nssv2994854, nssv2994824, nssv2994813, nssv2994900, nssv2994963, nssv2994897, nssv2995045, nssv2995012, nssv2994875, nssv2994874, nssv2994988, nssv2994837, nssv2995042, nssv2994841, nssv2994877, nssv2995034, nssv2994917, nssv2994961
SamplesNA19258, NA21317, NA12842, NA21488, NA21423, NA18621, NA12286, NA18862, NA10851, NA18524, NA18935, NA12344, NA18925, NA12801, NA18504, NA12340, NA12146, NA18959, NA21475, NA21301, NA18633, NA21522, NA18510, NA12750, NA12399, NA19107, NA18563, NA19192, NA19171, NA18940, NA18519, NA10835, NA10846, NA21359, NA18995, NA19191, NA18923, NA18558, NA18960, NA07048, NA07347, NA21381, NA19130, NA11930, NA19123, NA18868, NA11994, NA19207, NA19128, NA18966, NA18990, NA21523, NA19239, NA21387, NA21344, NA12777, NA21307, NA18605, NA21313, NA12760, NA12752, NA19120, NA07022, NA19194, NA19175, NA19161, NA12485, NA19184, NA18485, NA12877, NA18871, NA19103, NA18572, NA18948, NA21366, NA19208, NA11919, NA19177, NA19142, NA19150, NA12829, NA11893, NA19181, NA12056, NA19154, NA18857, NA19252, NA12144, NA10856, NA12546, NA19012, NA21316, NA18974, NA12043, NA21608, NA18953, NA18632, NA19256, NA18863, NA12272, NA21718, NA21390, NA12347, NA19117, NA18501, NA06994, NA07435, NA19223, NA19178, NA07349, NA19211, NA18636, NA18509, NA18609, NA11843, NA21384, NA18872, NA19121, NA18624, NA12154, NA18612, NA10837, NA18487, NA18620, NA18497, NA19141, NA21477, NA19186, NA21383, NA19249, NA11829, NA10845, NA12814, NA18507, NA21399, NA19145, NA18917, NA18603, NA12045, NA19092, NA18486, NA21648, NA12248, NA10857, NA19098, NA12155, NA07357, NA18967, NA19005, NA12812, NA19119, NA18635, NA19198, NA18860, NA12891, NA11992, NA21401, NA19138, NA18498, NA06993, NA18611, NA11917, NA12282, NA12005, NA21447, NA18970, NA18874, NA12274, NA06984, NA21512, NA21525, NA21453, NA21478, NA12889, NA21716, NA19189, NA21634, NA21442, NA18908, NA12375, NA19200, NA12748, NA19007, NA11831, NA21599, NA12335, NA19210, NA18934, NA12872, NA18859, NA19205, NA19236, NA18516, NA21439, NA18637, NA18910, NA18503, NA11839, NA10838, NA21485, NA19000, NA10830, NA18856, NA19113, NA18853, NA12827, NA12264, NA12817, NA19101, NA12766, NA21583, NA19160, NA18945, NA18608, NA06995, NA12716, NA11881, NA18961, NA18952, NA12864, NA12775, NA19174, NA19144, NA07051, NA18869, NA12874, NA18911, NA06986, NA19248, NA18971, NA19173, NA18994, NA10860, NA18500, NA18506, NA21581, NA21614, NA19096, NA18854, NA21312, NA21389, NA21490, NA19224, NA19146, NA21514, NA21440, NA18522, NA07034, NA18622, NA19153, NA18562, NA18965
Known GenesMIR548AE1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515224
Frequency
Sample Size2366
Observed Gain0
Observed Loss252
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer