A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv442687

Internal ID15154720
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73534419..73554275hg38UCSC Ensembl
Innerchr14:74001123..74020979hg19UCSC Ensembl
Innerchr14:73070876..73090732hg18UCSC Ensembl
Innerchr14:73070876..73090732hg17UCSC Ensembl
Allele length
AssemblyAllele length
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
Pubmed ID18776908
Accession Number(s)nsv442687
Sample Size270
Observed Gain0
Observed Loss191
Observed Complex0

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