A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514383



Internal ID15466071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104813128..104814624hg38UCSC Ensembl
Innerchr6:105261003..105262499hg19UCSC Ensembl
Innerchr6:105367696..105369192hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg381497
hg191497
hg181497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2927890, nssv2927927, nssv2927806, nssv2927795, nssv2927852, nssv2926472, nssv2927793, nssv2927815, nssv2927948, nssv2927791, nssv2926386, nssv2927870, nssv2926423, nssv2927850, nssv2927891, nssv2927945, nssv2926415, nssv2927876, nssv2927879, nssv2927843, nssv2927874, nssv2927938, nssv2927825, nssv2927883, nssv2926441, nssv2927823, nssv2926391, nssv2926475, nssv2927802, nssv2927919, nssv2927854, nssv2926394, nssv2926468, nssv2927799, nssv2927909, nssv2926396, nssv2927892, nssv2927952, nssv2926440, nssv2926453, nssv2926461, nssv2926420, nssv2927817, nssv2927949, nssv2927848, nssv2927895, nssv2927915, nssv2926430, nssv2927813, nssv2927835, nssv2927838, nssv2927933, nssv2926466, nssv2926399, nssv2927881, nssv2927860, nssv2926390, nssv2926459, nssv2927820, nssv2927884, nssv2927861, nssv2927877, nssv2927905, nssv2926414, nssv2926403, nssv2927932, nssv2927822, nssv2926473, nssv2926431, nssv2927836, nssv2926417, nssv2926424, nssv2927918, nssv2927923, nssv2926388, nssv2927868, nssv2927814, nssv2926429, nssv2927897, nssv2927925, nssv2926422, nssv2926442, nssv2926401, nssv2926426, nssv2927805, nssv2926425, nssv2927827, nssv2927942, nssv2926413, nssv2926421, nssv2926407, nssv2927931, nssv2927941, nssv2926405, nssv2926454, nssv2927801, nssv2927896, nssv2927950, nssv2926432, nssv2927829, nssv2927922, nssv2926419, nssv2927882, nssv2927857, nssv2926408, nssv2927910, nssv2926435, nssv2927849, nssv2926446, nssv2926457, nssv2926469, nssv2927846, nssv2927837, nssv2927858, nssv2927855, nssv2927880, nssv2927844, nssv2927885, nssv2927886, nssv2927864, nssv2927872, nssv2926455, nssv2927940, nssv2926395, nssv2926463, nssv2927812, nssv2927943, nssv2927826, nssv2927900, nssv2927873, nssv2927871, nssv2927797, nssv2927833, nssv2927841, nssv2926448, nssv2927824, nssv2927792, nssv2927912, nssv2927816, nssv2927903, nssv2927867, nssv2927944, nssv2927924, nssv2926402, nssv2927937, nssv2926427, nssv2927862, nssv2926434, nssv2926400, nssv2926410, nssv2927863, nssv2927911, nssv2927926, nssv2927893, nssv2927818, nssv2926392, nssv2926418, nssv2927935, nssv2926465, nssv2926387, nssv2927830, nssv2927934, nssv2927796, nssv2927808, nssv2926460, nssv2926474, nssv2927913, nssv2926406, nssv2927831, nssv2927917, nssv2926393, nssv2927810, nssv2927914, nssv2927798, nssv2927939, nssv2926409, nssv2927832, nssv2927878, nssv2927834, nssv2927929, nssv2926411, nssv2927936, nssv2927946, nssv2926397, nssv2926428, nssv2927869, nssv2926464, nssv2927851, nssv2927908, nssv2927889, nssv2927894, nssv2927907, nssv2926437, nssv2927828, nssv2927887, nssv2927875, nssv2926476, nssv2927821, nssv2927807, nssv2926439, nssv2926444, nssv2926449, nssv2926443, nssv2926456, nssv2927840, nssv2927865, nssv2927800, nssv2927920, nssv2927921, nssv2926438, nssv2926467, nssv2926404, nssv2926445, nssv2927859, nssv2927951, nssv2926451, nssv2926452, nssv2926471, nssv2927853, nssv2926462, nssv2927811, nssv2927804, nssv2927947, nssv2926433, nssv2926412, nssv2926447, nssv2927888, nssv2927899, nssv2926458, nssv2927794, nssv2927898, nssv2926436, nssv2927904, nssv2927845, nssv2927856, nssv2927819, nssv2926416, nssv2926398, nssv2926470, nssv2927928, nssv2927906, nssv2926389, nssv2927809, nssv2927916, nssv2927803, nssv2927930, nssv2927901, nssv2926450, nssv2927839, nssv2927847, nssv2927902, nssv2927842, nssv2927866
SamplesNA10859, NA19142, NA19137, NA19146, NA19183, NA10831, NA11881, NA18870, NA19248, NA12154, NA12718, NA12818, NA18863, NA19127, NA12489, NA19194, NA18605, NA21512, NA10843, NA12748, NA18509, NA21490, NA12344, NA19192, NA21524, NA18871, NA19222, NA21317, NA18933, NA21580, NA12801, NA18523, NA18952, NA18874, NA19173, NA12752, NA12875, NA21478, NA18869, NA21447, NA19093, NA11918, NA19003, NA21600, NA18511, NA19223, NA18545, NA21487, NA21718, NA18516, NA06993, NA21423, NA18972, NA12828, NA18517, NA18947, NA21403, NA21479, NA19184, NA18489, NA21386, NA18855, NA18484, NA19210, NA10855, NA21425, NA18994, NA07051, NA10837, NA19257, NA21312, NA21310, NA21489, NA18488, NA12044, NA12376, NA18506, NA18862, NA19147, NA21384, NA18949, NA18868, NA21400, NA10863, NA19140, NA11882, NA19161, NA11919, NA12763, NA19211, NA12843, NA18624, NA18508, NA19148, NA12282, NA12753, NA07034, NA21493, NA12004, NA12336, NA18854, NA21716, NA10846, NA18563, NA19197, NA07357, NA19107, NA18990, NA12343, NA18991, NA18636, NA18856, NA19096, NA12273, NA21359, NA07048, NA21513, NA10852, NA21453, NA18497, NA18547, NA11843, NA12329, NA19182, NA11831, NA18485, NA19256, NA11894, NA12400, NA18973, NA11995, NA18916, NA18593, NA19181, NA12830, NA12234, NA12144, NA19247, NA12145, NA19153, NA07346, NA19122, NA19129, NA19172, NA07014, NA12892, NA19094, NA19103, NA12348, NA12877, NA18498, NA21388, NA18923, NA18968, NA19102, NA06986, NA18522, NA19119, NA12485, NA19098, NA12872, NA19175, NA21303, NA21485, NA21381, NA18487, NA18564, NA18961, NA19237, NA18997, NA19221, NA10836, NA21475, NA12283, NA18562, NA19131, NA19159, NA18910, NA21440, NA19141, NA21313, NA21401, NA11832, NA19235, NA19258, NA12891, NA18987, NA12890, NA18582, NA19138, NA21635, NA19201, NA21439, NA12749, NA06991, NA06984, NA18867, NA19193, NA18872, NA19128, NA12812, NA18857, NA12156, NA12386, NA12889, NA19116, NA19123, NA19097, NA19132, NA21383, NA10830, NA21480, NA18577, NA19099, NA12878, NA21362, NA19205, NA10838, NA18917, NA19224, NA12399, NA12546, NA12842, NA12248, NA18499, NA18571, NA12817, NA19118, NA12045, NA19130, NA19171, NA12717, NA12874, NA18532, NA18853, NA19204, NA18935, NA18981, NA18908, NA19177, NA19249, NA06994, NA12274, NA12832, NA19185, NA12760, NA19200, NA11917, NA18519, NA19202, NA07000, NA19121, NA21494
Known GenesHACE1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514383
Frequency
Sample Size2366
Observed Gain0
Observed Loss253
Observed Complex0
Frequencyn/a


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