A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442976



Internal ID15155009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29869415..29953350hg38UCSC Ensembl
Innerchr6:29837192..29921127hg19UCSC Ensembl
Innerchr6:29945171..30029106hg18UCSC Ensembl
Innerchr6:29945171..30029106hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3883936
hg1983936
hg1883936
hg1783936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1630778, nssv1630796, nssv1630798, nssv1630775, nssv1630766, nssv1630761, nssv1630822, nssv1630992, nssv1630881, nssv1630894, nssv1630983, nssv1630858, nssv1630910, nssv1630828, nssv1630843, nssv1630768, nssv1630929, nssv1630972, nssv1630850, nssv1630890, nssv1630908, nssv1630978, nssv1630787, nssv1630964, nssv1630842, nssv1630911, nssv1630834, nssv1630943, nssv1630985, nssv1630932, nssv1630951, nssv1630968, nssv1630917, nssv1630852, nssv1630785, nssv1630938, nssv1630996, nssv1630776, nssv1630789, nssv1630959, nssv1630837, nssv1630868, nssv1630806, nssv1630863, nssv1630871, nssv1630936, nssv1630981, nssv1630820, nssv1630885, nssv1630791, nssv1630916, nssv1630824, nssv1630909, nssv1630823, nssv1630914, nssv1630957, nssv1630859, nssv1630884, nssv1630873, nssv1630779, nssv1630790, nssv1630899, nssv1630774, nssv1630847, nssv1630990, nssv1630803, nssv1630829, nssv1630895, nssv1630965, nssv1630797, nssv1630855, nssv1630905, nssv1630862, nssv1630821, nssv1630944, nssv1630958, nssv1630818, nssv1630939, nssv1630940, nssv1630835, nssv1630811, nssv1630987, nssv1630971, nssv1630919, nssv1630870, nssv1630771, nssv1630880, nssv1630921, nssv1630898, nssv1630825, nssv1630878, nssv1630888, nssv1630857, nssv1630928, nssv1630979, nssv1630970, nssv1630915, nssv1630924, nssv1630946, nssv1630886, nssv1630994, nssv1630942, nssv1630955, nssv1630984, nssv1630922, nssv1630844, nssv1630864, nssv1630807, nssv1630780, nssv1630848, nssv1630961, nssv1630872, nssv1630788, nssv1630904, nssv1630786, nssv1630923, nssv1630995, nssv1630934, nssv1630953, nssv1630849, nssv1630846, nssv1630762, nssv1630799, nssv1630893, nssv1630854, nssv1630826, nssv1630969, nssv1630982, nssv1630845, nssv1630907, nssv1630891, nssv1630948, nssv1630767, nssv1630770, nssv1630819, nssv1630831, nssv1630902, nssv1630998, nssv1630800, nssv1630853, nssv1630773, nssv1630997, nssv1630804, nssv1630874, nssv1630950, nssv1630954, nssv1630956, nssv1630840, nssv1630861, nssv1630980, nssv1630877, nssv1630882, nssv1630892, nssv1630962, nssv1630930, nssv1630963, nssv1630931, nssv1630889, nssv1630839, nssv1630817, nssv1630901, nssv1630777, nssv1630925, nssv1630949, nssv1630841, nssv1630887, nssv1630879, nssv1630897, nssv1630912, nssv1630832, nssv1630833, nssv1630763, nssv1630836, nssv1630838, nssv1630920, nssv1630764, nssv1630976, nssv1630782, nssv1630918, nssv1630966, nssv1630945, nssv1630765, nssv1630813, nssv1630809, nssv1630865, nssv1630784, nssv1630906, nssv1630973, nssv1630977, nssv1630991, nssv1630805, nssv1630900, nssv1630802, nssv1630937, nssv1630801, nssv1630810, nssv1630913, nssv1630896, nssv1630926, nssv1630999, nssv1630793, nssv1630772, nssv1630986, nssv1630993, nssv1630989, nssv1630947, nssv1630795, nssv1630883, nssv1630903, nssv1631000, nssv1630830, nssv1630808, nssv1630827, nssv1630875, nssv1630812, nssv1630794, nssv1630876, nssv1630792, nssv1630866, nssv1630927, nssv1630814, nssv1630967, nssv1630815, nssv1630856, nssv1630860, nssv1630851, nssv1630816, nssv1630974, nssv1630783, nssv1630988, nssv1630769, nssv1630869, nssv1630952, nssv1630935, nssv1630941, nssv1630781, nssv1630867, nssv1630933, nssv1630960, nssv1630975
SamplesNA10859, NA18503, NA19142, NA19012, NA19137, NA10831, NA11881, NA18621, NA19207, NA18870, NA18964, NA12154, NA18863, NA19127, NA12043, NA19152, NA12249, NA18861, NA18605, NA12750, NA18594, NA18951, NA19192, NA18914, NA18871, NA12802, NA19222, NA18561, NA12801, NA18952, NA18975, NA07056, NA18966, NA19173, NA12752, NA12875, NA18612, NA19209, NA18501, NA19093, NA19120, NA18500, NA18526, NA10839, NA18550, NA18570, NA19003, NA12264, NA19223, NA12815, NA10847, NA18545, NA18603, NA18948, NA18516, NA12707, NA12813, NA06993, NA19203, NA18953, NA18969, NA18972, NA18517, NA18947, NA18573, NA18608, NA07019, NA12005, NA18855, NA19144, NA07348, NA18507, NA10855, NA18860, NA18994, NA07029, NA18524, NA18965, NA18505, NA12044, NA19208, NA18506, NA18862, NA18943, NA18949, NA19143, NA10863, NA12865, NA11882, NA19161, NA12763, NA18912, NA18998, NA18624, NA18508, NA18967, NA19239, NA12056, NA18992, NA11839, NA11840, NA12753, NA07034, NA12004, NA18566, NA11994, NA12155, NA18576, NA18622, NA18960, NA10846, NA12864, NA18563, NA07345, NA07357, NA18623, NA12762, NA12873, NA18990, NA18991, NA12814, NA18636, NA12740, NA18592, NA18856, NA07048, NA12761, NA18956, NA18959, NA18609, NA18547, NA11831, NA18637, NA18973, NA11995, NA18593, NA12234, NA12144, NA18970, NA12751, NA12006, NA19000, NA12239, NA12145, NA12716, NA18537, NA18620, NA19129, NA19172, NA12892, NA18633, NA18572, NA19094, NA19103, NA06985, NA19206, NA18968, NA19102, NA19238, NA19005, NA18502, NA19119, NA18558, NA19098, NA19154, NA12057, NA10856, NA19139, NA12872, NA18564, NA18858, NA18942, NA18961, NA18540, NA18997, NA19221, NA19131, NA19159, NA18974, NA19141, NA18940, NA19145, NA11832, NA12891, NA18987, NA10851, NA18582, NA18999, NA10857, NA12146, NA07055, NA18552, NA19138, NA10860, NA18995, NA06991, NA19193, NA18872, NA19128, NA12812, NA18857, NA12156, NA19116, NA10835, NA18971, NA19132, NA10830, NA18577, NA19099, NA07022, NA12878, NA11830, NA11992, NA12003, NA18944, NA19205, NA10838, NA11993, NA19160, NA12248, NA18571, NA11829, NA12236, NA19171, NA19240, NA12717, NA12874, NA18532, NA19204, NA18981, NA06994, NA12760, NA19092, NA18555, NA19200, NA19007, NA19202, NA07000, NA10854, NA10861
Known GenesHCG4B, HLA-A, HLA-H
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)nsv442976
Frequency
Sample Size270
Observed Gain0
Observed Loss240
Observed Complex0
Frequencyn/a


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