A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514455



Internal ID15466141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143526465..143843910hg38UCSC Ensembl
Innerchr7:143223558..143541003hg19UCSC Ensembl
Innerchr7:142933680..143171936hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38317446
hg19317446
hg18238257
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2940811, nssv2940806, nssv2940790, nssv2940867, nssv2940856, nssv2940772, nssv2940897, nssv2940854, nssv2940921, nssv2940817, nssv2940744, nssv2940757, nssv2940907, nssv2940777, nssv2940749, nssv2940928, nssv2940737, nssv2940844, nssv2940911, nssv2940809, nssv2940793, nssv2940883, nssv2940914, nssv2940805, nssv2940769, nssv2940885, nssv2940836, nssv2940879, nssv2940795, nssv2940754, nssv2940801, nssv2940889, nssv2940741, nssv2940918, nssv2940747, nssv2940824, nssv2940729, nssv2940774, nssv2940755, nssv2940868, nssv2940857, nssv2940896, nssv2940767, nssv2940859, nssv2940792, nssv2940880, nssv2940765, nssv2940803, nssv2940922, nssv2940742, nssv2940832, nssv2940827, nssv2940912, nssv2940908, nssv2940919, nssv2940816, nssv2940782, nssv2940917, nssv2940865, nssv2940852, nssv2940842, nssv2940731, nssv2940810, nssv2940888, nssv2940839, nssv2940902, nssv2940848, nssv2940798, nssv2940821, nssv2940761, nssv2940748, nssv2940903, nssv2940853, nssv2940834, nssv2940866, nssv2940768, nssv2940740, nssv2940924, nssv2940799, nssv2940786, nssv2940882, nssv2940925, nssv2940753, nssv2940837, nssv2940900, nssv2940826, nssv2940858, nssv2940862, nssv2940863, nssv2940822, nssv2940920, nssv2940739, nssv2940878, nssv2940771, nssv2940804, nssv2940931, nssv2940905, nssv2940751, nssv2940750, nssv2940745, nssv2940855, nssv2940819, nssv2940789, nssv2940870, nssv2940890, nssv2940898, nssv2940877, nssv2940843, nssv2940831, nssv2940813, nssv2940906, nssv2940735, nssv2940873, nssv2940820, nssv2940734, nssv2940895, nssv2940875, nssv2940864, nssv2940830, nssv2940738, nssv2940887, nssv2940849, nssv2940802, nssv2940779, nssv2940763, nssv2940835, nssv2940872, nssv2940825, nssv2940756, nssv2940796, nssv2940814, nssv2940800, nssv2940881, nssv2940807, nssv2940929, nssv2940770, nssv2940766, nssv2940926, nssv2940815, nssv2940823, nssv2940927, nssv2940841, nssv2940818, nssv2940733, nssv2940773, nssv2940752, nssv2940838, nssv2940847, nssv2940728, nssv2940829, nssv2940784, nssv2940778, nssv2940904, nssv2940797, nssv2940909, nssv2940901, nssv2940915, nssv2940899, nssv2940764, nssv2940760, nssv2940913, nssv2940758, nssv2940932, nssv2940762, nssv2940730, nssv2940781, nssv2940886, nssv2940840, nssv2940808, nssv2940746, nssv2940845, nssv2940833, nssv2940930, nssv2940732, nssv2940892, nssv2940894, nssv2940850, nssv2940871, nssv2940743, nssv2940869, nssv2940891, nssv2940736, nssv2940785, nssv2940783, nssv2940759, nssv2940934, nssv2940910, nssv2940860, nssv2940893, nssv2940874, nssv2940876, nssv2940791, nssv2940812, nssv2940851, nssv2940780, nssv2940788, nssv2940923, nssv2940884, nssv2940787, nssv2940776, nssv2940794, nssv2940846, nssv2940861, nssv2940933, nssv2940775, nssv2940916, nssv2940828
SamplesNA18998, NA18497, NA19258, NA19237, NA19222, NA11830, NA21686, NA21524, NA21383, NA18924, NA11829, NA19204, NA18862, NA18861, NA18592, NA18980, NA18935, NA12344, NA19145, NA18917, NA19092, NA21648, NA12004, NA21717, NA21386, NA12340, NA18959, NA12832, NA19190, NA19098, NA18870, NA12400, NA18633, NA18510, NA07357, NA18969, NA19107, NA19127, NA19192, NA19171, NA18519, NA12812, NA19201, NA18489, NA21600, NA21526, NA19191, NA19119, NA18635, NA19198, NA18860, NA18547, NA12348, NA19131, NA18942, NA18916, NA11992, NA19197, NA11918, NA12283, NA19138, NA21381, NA21365, NA21391, NA18611, NA12275, NA18970, NA19180, NA19123, NA18874, NA12274, NA06984, NA07014, NA21512, NA19137, NA21525, NA19235, NA19207, NA19172, NA19128, NA21716, NA19189, NA18990, NA21523, NA21362, NA19209, NA21442, NA18975, NA21400, NA18908, NA18973, NA18867, NA19007, NA21307, NA21313, NA19247, NA19120, NA07022, NA18934, NA10836, NA10863, NA19152, NA19161, NA18956, NA19184, NA19205, NA18485, NA19236, NA21439, NA12718, NA12376, NA18871, NA19103, NA18572, NA18948, NA18503, NA21438, NA10838, NA21366, NA19208, NA19221, NA18907, NA18566, NA18573, NA12818, NA19177, NA19000, NA07031, NA19150, NA12386, NA18875, NA18518, NA12829, NA19151, NA18499, NA18930, NA18856, NA19154, NA18857, NA12264, NA19099, NA19101, NA19257, NA18555, NA12766, NA06985, NA18523, NA19132, NA19095, NA12778, NA10856, NA18570, NA21309, NA12546, NA19012, NA18576, NA18608, NA21608, NA19094, NA19003, NA19206, NA19183, NA12716, NA19256, NA19147, NA18863, NA12775, NA19174, NA19100, NA12873, NA19144, NA07051, NA21718, NA21615, NA21390, NA18869, NA12874, NA12763, NA21513, NA19182, NA19143, NA12708, NA19117, NA06994, NA19109, NA19178, NA18987, NA19211, NA10860, NA18500, NA19185, NA18609, NA18873, NA19116, NA18872, NA19121, NA21363, NA19129, NA19146, NA18488, NA19148, NA21514, NA19214, NA18622, NA19153, NA12776, NA11832
Known GenesCTAGE15, CTAGE6, FAM115C, LOC154761
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514455
Frequency
Sample Size2366
Observed Gain169
Observed Loss38
Observed Complex0
Frequencyn/a


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