A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056130



Internal ID18798661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36112573..36208237hg38UCSC Ensembl
Innerchr17:34439966..34535639hg19UCSC Ensembl
Innerchr17:31464079..31559752hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3895665
hg1995674
hg1895674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3146n100
Supporting Variantsnssv3720724, nssv3561769, nssv3561806, nssv3561793, nssv3561843, nssv3720723, nssv3561813, nssv3561787, nssv3561761, nssv3561786, nssv3720737, nssv3561830, nssv3720720, nssv3561819, nssv3561759, nssv3720730, nssv3561835, nssv3561849, nssv3561827, nssv3561839, nssv3561770, nssv3561764, nssv3720739, nssv3561782, nssv3561825, nssv3561792, nssv3561814, nssv3561846, nssv3561837, nssv3561852, nssv3561783, nssv3720738, nssv3561763, nssv3561776, nssv3561778, nssv3561785, nssv3561808, nssv3561845, nssv3561798, nssv3561797, nssv3561762, nssv3561834, nssv3561810, nssv3561794, nssv3720727, nssv3561821, nssv3720736, nssv3561760, nssv3561822, nssv3561795, nssv3720718, nssv3561775, nssv3561767, nssv3720729, nssv3561805, nssv3561823, nssv3561801, nssv3561771, nssv3720721, nssv3561800, nssv3561790, nssv3720735, nssv3561780, nssv3720740, nssv3561847, nssv3561811, nssv3561815, nssv3720731, nssv3720726, nssv3561828, nssv3561812, nssv3720728, nssv3561824, nssv3561853, nssv3561804, nssv3561802, nssv3561829, nssv3561817, nssv3561777, nssv3561788, nssv3561848, nssv3561838, nssv3561809, nssv3561779, nssv3561826, nssv3561851, nssv3561803, nssv3561781, nssv3720742, nssv3561820, nssv3561831, nssv3720734, nssv3561774, nssv3561807, nssv3561765, nssv3720719, nssv3561844, nssv3561796, nssv3561842, nssv3561836, nssv3720741, nssv3561841, nssv3561768, nssv3720725, nssv3561791, nssv3561773, nssv3561799, nssv3720717, nssv3561818, nssv3561766, nssv3561816, nssv3720733, nssv3561772, nssv3720732, nssv3561789, nssv3720722, nssv3561833, nssv3561850, nssv3561840, nssv3561784, nssv3561832
Samples
Known GenesCCL3L1, CCL3L3, TBC1D3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056130
Frequency
Sample Size29084
Observed Gain121
Observed Loss0
Observed Complex0
Frequencyn/a


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