Variant Details

Variant: nsv442687

Internal ID

15154720

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:73534419..73554275	hg38	UCSC Ensembl
Inner	chr14:74001123..74020979	hg19	UCSC Ensembl
Inner	chr14:73070876..73090732	hg18	UCSC Ensembl
Inner	chr14:73070876..73090732	hg17	UCSC Ensembl

Cytoband

14q24.3

Allele length

Assembly	Allele length
hg38	19857
hg19	19857
hg18	19857
hg17	19857

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1646848, nssv1646963, nssv1646828, nssv1646815, nssv1646806, nssv1646853, nssv1646847, nssv1646810, nssv1646862, nssv1646835, nssv1646871, nssv1646981, nssv1646909, nssv1646900, nssv1646855, nssv1646956, nssv1646811, nssv1646937, nssv1646904, nssv1646965, nssv1646894, nssv1646978, nssv1646969, nssv1646955, nssv1646938, nssv1646917, nssv1646986, nssv1646834, nssv1646930, nssv1646840, nssv1646951, nssv1646833, nssv1646899, nssv1646817, nssv1646964, nssv1646873, nssv1646798, nssv1646881, nssv1646932, nssv1646940, nssv1646819, nssv1646890, nssv1646877, nssv1646921, nssv1646886, nssv1646973, nssv1646827, nssv1646974, nssv1646962, nssv1646919, nssv1646914, nssv1646927, nssv1646802, nssv1646934, nssv1646933, nssv1646869, nssv1646898, nssv1646895, nssv1646977, nssv1646953, nssv1646887, nssv1646910, nssv1646805, nssv1646968, nssv1646883, nssv1646870, nssv1646823, nssv1646863, nssv1646812, nssv1646796, nssv1646925, nssv1646851, nssv1646944, nssv1646804, nssv1646918, nssv1646929, nssv1646902, nssv1646976, nssv1646966, nssv1646982, nssv1646875, nssv1646878, nssv1646807, nssv1646816, nssv1646889, nssv1646825, nssv1646922, nssv1646915, nssv1646867, nssv1646865, nssv1646852, nssv1646845, nssv1646954, nssv1646861, nssv1646935, nssv1646985, nssv1646983, nssv1646891, nssv1646941, nssv1646859, nssv1646905, nssv1646832, nssv1646803, nssv1646908, nssv1646844, nssv1646949, nssv1646818, nssv1646936, nssv1646884, nssv1646980, nssv1646799, nssv1646826, nssv1646943, nssv1646868, nssv1646926, nssv1646820, nssv1646975, nssv1646841, nssv1646814, nssv1646957, nssv1646880, nssv1646849, nssv1646839, nssv1646972, nssv1646970, nssv1646860, nssv1646831, nssv1646808, nssv1646948, nssv1646842, nssv1646874, nssv1646939, nssv1646893, nssv1646979, nssv1646854, nssv1646821, nssv1646897, nssv1646912, nssv1646984, nssv1646971, nssv1646952, nssv1646843, nssv1646916, nssv1646879, nssv1646896, nssv1646813, nssv1646931, nssv1646882, nssv1646866, nssv1646856, nssv1646961, nssv1646888, nssv1646836, nssv1646958, nssv1646947, nssv1646829, nssv1646800, nssv1646864, nssv1646960, nssv1646907, nssv1646906, nssv1646850, nssv1646838, nssv1646822, nssv1646837, nssv1646959, nssv1646824, nssv1646913, nssv1646942, nssv1646911, nssv1646858, nssv1646872, nssv1646892, nssv1646967, nssv1646846, nssv1646809, nssv1646920, nssv1646801, nssv1646876, nssv1646903, nssv1646857, nssv1646923, nssv1646946, nssv1646950, nssv1646945, nssv1646928, nssv1646885, nssv1646797, nssv1646901, nssv1646924, nssv1646830

Samples

NA18998, NA12717, NA19222, NA11830, NA18621, NA18947, NA11995, NA11829, NA19204, NA18862, NA18592, NA18508, NA12814, NA10851, NA18524, NA18980, NA12236, NA18561, NA18507, NA18999, NA18603, NA12751, NA18545, NA07029, NA12004, NA12801, NA18504, NA12248, NA12146, NA18959, NA12865, NA18526, NA18633, NA12750, NA12155, NA07357, NA18969, NA12813, NA18967, NA18563, NA19005, NA18944, NA18940, NA18550, NA12812, NA10835, NA18995, NA10854, NA12802, NA19119, NA18635, NA18558, NA18547, NA19131, NA18960, NA18942, NA18582, NA18964, NA06993, NA19130, NA18949, NA18611, NA12761, NA18970, NA07019, NA19137, NA19238, NA11994, NA19207, NA18966, NA12815, NA19159, NA18990, NA19239, NA10839, NA18975, NA18973, NA11993, NA19007, NA11831, NA10847, NA18951, NA18605, NA12760, NA19120, NA07022, NA12753, NA10863, NA19152, NA12878, NA12872, NA19161, NA18956, NA18515, NA19205, NA18991, NA18529, NA18516, NA18637, NA18579, NA18572, NA18976, NA18948, NA18503, NA11839, NA18981, NA12234, NA18537, NA18566, NA18573, NA19142, NA19000, NA11840, NA10830, NA12249, NA12056, NA18912, NA12892, NA19154, NA12239, NA12707, NA18555, NA07345, NA12144, NA19132, NA10856, NA18570, NA18593, NA18945, NA19012, NA18974, NA18576, NA18608, NA18953, NA19003, NA18978, NA18914, NA18632, NA11882, NA18542, NA06991, NA12716, NA11881, NA18961, NA18952, NA18863, NA18564, NA12057, NA10859, NA19140, NA18913, NA19240, NA12873, NA18992, NA10861, NA18943, NA19193, NA12874, NA07348, NA12763, NA18594, NA19143, NA12740, NA06994, NA18971, NA18994, NA10860, NA18636, NA18609, NA18506, NA19102, NA12875, NA18972, NA18552, NA07056, NA18968, NA18624, NA12006, NA18623, NA07000, NA18522, NA12154, NA07034, NA18612, NA18622, NA19153, NA18562, NA18965, NA18577, NA18620, NA18997

Known Genes

ACOT1, HEATR4

Method

SNP array

Analysis

We 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

Reference

McCarroll_et_al_2008

Pubmed ID

18776908

Accession Number(s)

nsv442687

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	191
Observed Complex	0
Frequency	n/a