A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558043



Internal ID15998766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31113353..31253973hg38UCSC Ensembl
Innerchr12:31266287..31406907hg19UCSC Ensembl
Innerchr12:31157554..31298174hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38140621
hg19140621
hg18140621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2464n54
Supporting Variantsnssv1175849, nssv1175862, nssv791546, nssv1175854, nssv791544, nssv791561, nssv1175848, nssv791558, nssv1175840, nssv1175863, nssv791548, nssv791565, nssv791542, nssv1175838, nssv1175839, nssv791549, nssv1175842, nssv1175861, nssv791543, nssv1175859, nssv1175837, nssv791552, nssv791562, nssv791540, nssv791541, nssv791557, nssv1175860, nssv1175851, nssv791555, nssv1175843, nssv1175844, nssv1175857, nssv791560, nssv791559, nssv791554, nssv1175847, nssv1175852, nssv791539, nssv1175841, nssv791564, nssv791551, nssv1175850, nssv1175846, nssv1175855, nssv1175856, nssv791550, nssv1175858, nssv791553, nssv1175853, nssv791556, nssv1175845, nssv791547, nssv791563, nssv791545
Samples1782681115_A, HGDP01377, 1782681164_A, HGDP00563, 1782681109_A, 1780862574_A, 1780854296_A, HGDP00060, 1780862576_A, 1782681076_A, 1780862575_A, NINDS_29, HGDP00673, 1780862551_A, HGDP00951, HGDP01362, 1780862127_A, HGDP01253, HGDP00009, 1782681296_A, NINDS_159, HGDP01280, 1780854159_A, 1780854481_A, HGDP00915, 1780862528_A, 1782681316_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558043
Frequency
Sample Size17421
Observed Gain54
Observed Loss0
Observed Complex0
Frequencyn/a


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