A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514258



Internal ID15465948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150960694..150962630hg38UCSC Ensembl
Innerchr4:151881846..151883782hg19UCSC Ensembl
Innerchr4:152101296..152103232hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381937
hg191937
hg181937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2902804, nssv2902837, nssv2902821, nssv2902819, nssv2902783, nssv2902774, nssv2902771, nssv2902781, nssv2902762, nssv2902797, nssv2902788, nssv2902766, nssv2902757, nssv2902758, nssv2902835, nssv2902833, nssv2902754, nssv2902838, nssv2902811, nssv2902818, nssv2902799, nssv2902805, nssv2902810, nssv2902834, nssv2902809, nssv2902790, nssv2902829, nssv2902768, nssv2902782, nssv2902823, nssv2902830, nssv2902777, nssv2902824, nssv2902778, nssv2902744, nssv2902808, nssv2902789, nssv2902765, nssv2902772, nssv2902763, nssv2902801, nssv2902755, nssv2902793, nssv2902802, nssv2902764, nssv2902780, nssv2902792, nssv2902831, nssv2902786, nssv2902759, nssv2902807, nssv2902756, nssv2902760, nssv2902743, nssv2902776, nssv2902813, nssv2902815, nssv2902785, nssv2902752, nssv2902820, nssv2902773, nssv2902753, nssv2902827, nssv2902749, nssv2902798, nssv2902779, nssv2902814, nssv2902745, nssv2902750, nssv2902828, nssv2902767, nssv2902761, nssv2902803, nssv2902836, nssv2902748, nssv2902822, nssv2902795, nssv2902791, nssv2902839, nssv2902784, nssv2902826, nssv2902816, nssv2902746, nssv2902812, nssv2902775, nssv2902817, nssv2902832, nssv2902770, nssv2902787, nssv2902800, nssv2902751, nssv2902794, nssv2902796, nssv2902769, nssv2902747, nssv2902825, nssv2902806
SamplesNA19142, NA19137, NA18870, NA19248, NA18863, NA19127, NA19194, NA18509, NA18871, NA19222, NA21317, NA21580, NA18874, NA19174, NA21478, NA21599, NA19209, NA18869, NA19178, NA19191, NA18511, NA18859, NA18516, NA19186, NA21423, NA19109, NA19150, NA21479, NA19184, NA18855, NA19210, NA18860, NA21425, NA21454, NA19108, NA19180, NA19236, NA18506, NA18862, NA18873, NA18868, NA19143, NA21400, NA19117, NA19140, NA19211, NA18508, NA19239, NA21686, NA21488, NA19107, NA18856, NA19096, NA18485, NA19256, NA21608, NA19100, NA19190, NA18518, NA19122, NA19129, NA19172, NA19189, NA19103, NA18498, NA18522, NA18875, NA21455, NA18487, NA21475, NA19141, NA19145, NA21401, NA19101, NA21344, NA19193, NA21601, NA18872, NA19128, NA19115, NA19123, NA21480, NA19099, NA21366, NA19225, NA19224, NA21583, NA18924, NA19240, NA18853, NA19204, NA19113, NA21614, NA18908, NA19185, NA18519, NA19121
Known GenesLRBA
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514258
Frequency
Sample Size2366
Observed Gain0
Observed Loss97
Observed Complex0
Frequencyn/a


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