A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv312n27



Internal ID22767041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34426393..34508394hg38UCSC Ensembl
chr15:34718594..34800595hg19UCSC Ensembl
chr15:32505886..32587887hg18UCSC Ensembl
chr15:32505886..32587887hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3882002
hg1982002
hg1882002
hg1782002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456889, nsv456796, nsv456802, nsv456813, nsv456890, nsv456871, nsv456821, nsv456873, nsv456864, nsv456914, nsv456804, nsv456820, nsv456917, nsv456866, nsv456875, nsv456837, nsv456805, nsv456798, nsv456828, nsv456818, nsv456825, nsv456920, nsv456925, nsv456809, nsv456822, nsv456872, nsv456918, nsv456799, nsv456915, nsv456883, nsv456896, nsv456903, nsv456907, nsv456817, nsv456900, nsv456835, nsv456904, nsv456816, nsv456862, nsv456811, nsv456793, nsv456823, nsv456807, nsv456877, nsv456803, nsv456906, nsv456854, nsv456865, nsv456850, nsv456861, nsv456857, nsv456879, nsv456834, nsv456826, nsv456881, nsv456800, nsv456905, nsv456860, nsv456912, nsv456888, nsv456893, nsv456851, nsv456845, nsv456806, nsv456909, nsv456884, nsv456899, nsv456844, nsv456859, nsv456921, nsv456853, nsv456870, nsv456880, nsv456911, nsv456815, nsv456916, nsv456868, nsv456894, nsv456924, nsv456878, nsv456898, nsv456848, nsv456829, nsv456810, nsv456892, nsv456814, nsv456794, nsv456895, nsv456846, nsv456913, nsv456836, nsv456891, nsv456901, nsv456812, nsv456801, nsv456795
SamplesHGDP01166, HGDP00397, HGDP00796, HGDP00376, HGDP00133, HGDP00267, HGDP00315, HGDP00433, HGDP00910, 1798860210_A, HGDP00524, 1798860371_A, HGDP00545, HGDP00116, HGDP00258, HGDP00797, HGDP01334, NINDS_23, HGDP00734, 1780862521_A, HGDP00881, HGDP01312, HGDP00693, 1782681208_A, HGDP00679, HGDP00541, 1782681091_A, 1780854294_A, HGDP00580, HGDP00151, 1780862310_A, HGDP01363, NINDS_147, HGDP00136, NINDS_227, HGDP01167, HGDP01200, HGDP00756, NINDS_57, NINDS_109, HGDP00099, HGDP01187, 1782681110_A, HGDP00674, 1780854118_A, HGDP01257, 1787431198_A, HGDP01412, 1782681076_A, 1780854299_A, NINDS_129, HGDP01171, 1798860049_A, NINDS_256, NINDS_111, 1780862461_A, 1780854341_A, HGDP00251, 1780854117_A, NINDS_230, NINDS_201, HGDP00903, NINDS_59, NINDS_160, HGDP01097, 1780862301_A, HGDP01073, NINDS_200, HGDP01253, HGDP01405, HGDP01064, HGDP00177, 1780854185_A, 1798860251_A, 1780854557_A, HGDP00868, HGDP00635, 1782681296_A, HGDP00906, HGDP01386, HGDP00643, 1798860277_A, HGDP00931, HGDP00550, NINDS_44, 1780862094_A, NINDS_134, HGDP01201, HGDP00515, 1780862435_A, NINDS_6, 1780862309_A, HGDP00941, NINDS_234, HGDP01418, 1780854128_A
Known GenesGOLGA8A
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv312n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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