A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442687



Internal ID15154720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73534419..73554275hg38UCSC Ensembl
Innerchr14:74001123..74020979hg19UCSC Ensembl
Innerchr14:73070876..73090732hg18UCSC Ensembl
Innerchr14:73070876..73090732hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3819857
hg1919857
hg1819857
hg1719857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1646936, nssv1646854, nssv1646830, nssv1646866, nssv1646918, nssv1646863, nssv1646909, nssv1646809, nssv1646905, nssv1646838, nssv1646872, nssv1646849, nssv1646924, nssv1646890, nssv1646906, nssv1646948, nssv1646855, nssv1646932, nssv1646840, nssv1646847, nssv1646827, nssv1646950, nssv1646953, nssv1646979, nssv1646877, nssv1646895, nssv1646942, nssv1646831, nssv1646834, nssv1646861, nssv1646803, nssv1646824, nssv1646848, nssv1646821, nssv1646982, nssv1646879, nssv1646925, nssv1646841, nssv1646845, nssv1646972, nssv1646911, nssv1646983, nssv1646859, nssv1646901, nssv1646829, nssv1646934, nssv1646823, nssv1646852, nssv1646907, nssv1646943, nssv1646860, nssv1646981, nssv1646837, nssv1646817, nssv1646813, nssv1646875, nssv1646899, nssv1646819, nssv1646904, nssv1646798, nssv1646802, nssv1646805, nssv1646937, nssv1646910, nssv1646927, nssv1646804, nssv1646811, nssv1646844, nssv1646969, nssv1646957, nssv1646833, nssv1646928, nssv1646965, nssv1646975, nssv1646797, nssv1646945, nssv1646889, nssv1646808, nssv1646839, nssv1646858, nssv1646896, nssv1646836, nssv1646915, nssv1646857, nssv1646959, nssv1646912, nssv1646951, nssv1646977, nssv1646891, nssv1646933, nssv1646955, nssv1646922, nssv1646887, nssv1646978, nssv1646908, nssv1646902, nssv1646820, nssv1646883, nssv1646888, nssv1646985, nssv1646876, nssv1646900, nssv1646976, nssv1646939, nssv1646961, nssv1646920, nssv1646938, nssv1646960, nssv1646913, nssv1646825, nssv1646940, nssv1646874, nssv1646796, nssv1646828, nssv1646832, nssv1646856, nssv1646868, nssv1646897, nssv1646862, nssv1646884, nssv1646810, nssv1646919, nssv1646878, nssv1646926, nssv1646958, nssv1646846, nssv1646816, nssv1646873, nssv1646980, nssv1646970, nssv1646871, nssv1646952, nssv1646806, nssv1646870, nssv1646815, nssv1646967, nssv1646835, nssv1646949, nssv1646842, nssv1646941, nssv1646822, nssv1646864, nssv1646880, nssv1646964, nssv1646966, nssv1646814, nssv1646812, nssv1646963, nssv1646850, nssv1646946, nssv1646973, nssv1646853, nssv1646885, nssv1646894, nssv1646800, nssv1646986, nssv1646892, nssv1646929, nssv1646818, nssv1646882, nssv1646916, nssv1646869, nssv1646898, nssv1646893, nssv1646914, nssv1646968, nssv1646974, nssv1646930, nssv1646903, nssv1646807, nssv1646826, nssv1646867, nssv1646935, nssv1646944, nssv1646801, nssv1646886, nssv1646917, nssv1646947, nssv1646799, nssv1646971, nssv1646921, nssv1646956, nssv1646962, nssv1646931, nssv1646843, nssv1646954, nssv1646881, nssv1646923, nssv1646851, nssv1646984, nssv1646865
SamplesNA10859, NA18503, NA19142, NA19012, NA19137, NA11881, NA18621, NA19207, NA18964, NA12154, NA18863, NA19152, NA12249, NA18605, NA12750, NA18594, NA18951, NA18914, NA12802, NA19222, NA18561, NA12801, NA18952, NA18975, NA07056, NA18966, NA12875, NA18612, NA19120, NA18526, NA10839, NA18550, NA18570, NA19003, NA12815, NA10847, NA18545, NA18603, NA18948, NA18516, NA12707, NA12813, NA06993, NA18529, NA18953, NA18969, NA18972, NA18947, NA18573, NA18608, NA18542, NA07019, NA07348, NA18507, NA18994, NA07029, NA18524, NA18965, NA18506, NA18862, NA18943, NA18949, NA19143, NA10863, NA18632, NA12865, NA19140, NA11882, NA19161, NA12763, NA18912, NA18998, NA18624, NA18508, NA18967, NA19239, NA12056, NA18992, NA11839, NA11840, NA12753, NA07034, NA12004, NA18566, NA11994, NA18635, NA12155, NA18576, NA18622, NA18960, NA18563, NA07345, NA07357, NA18623, NA12873, NA18990, NA18991, NA12814, NA18636, NA12740, NA18592, NA12761, NA18956, NA18959, NA18609, NA18547, NA11831, NA18976, NA18637, NA18973, NA11995, NA18593, NA12234, NA12144, NA18970, NA12751, NA12006, NA19000, NA12239, NA19153, NA12716, NA18537, NA18620, NA18515, NA12892, NA18633, NA18572, NA18968, NA19102, NA18522, NA19238, NA19005, NA19119, NA18558, NA19154, NA12057, NA10856, NA12872, NA18504, NA18978, NA18564, NA18942, NA18961, NA18997, NA18562, NA19131, NA19159, NA18579, NA18974, NA18945, NA18940, NA10851, NA18582, NA18999, NA12146, NA18552, NA10860, NA18995, NA06991, NA19193, NA12812, NA10835, NA18971, NA19132, NA10830, NA18577, NA07022, NA12878, NA11830, NA18944, NA19205, NA11993, NA12248, NA18611, NA11829, NA12236, NA19130, NA19240, NA12717, NA12874, NA19204, NA18981, NA06994, NA18913, NA12760, NA18555, NA19007, NA07000, NA18980, NA10854, NA10861
Known GenesACOT1, HEATR4
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442687
Frequency
Sample Size270
Observed Gain0
Observed Loss191
Observed Complex0
Frequencyn/a


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