A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514149



Internal ID15465843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46753234..46808734hg38UCSC Ensembl
Innerchr3:46794724..46850224hg19UCSC Ensembl
Innerchr3:46769728..46825228hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3855501
hg1955501
hg1855501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2898839, nssv2899648, nssv2899642, nssv2899716, nssv2899720, nssv2899703, nssv2899616, nssv2899732, nssv2898838, nssv2899717, nssv2899674, nssv2899632, nssv2899622, nssv2898861, nssv2899689, nssv2899671, nssv2899723, nssv2899633, nssv2899666, nssv2898844, nssv2899733, nssv2899636, nssv2899699, nssv2899640, nssv2898858, nssv2899695, nssv2899604, nssv2899710, nssv2899615, nssv2899619, nssv2898842, nssv2899606, nssv2898841, nssv2899726, nssv2899705, nssv2899698, nssv2899704, nssv2899646, nssv2899725, nssv2899736, nssv2899737, nssv2899659, nssv2899624, nssv2899631, nssv2899706, nssv2899611, nssv2899658, nssv2899634, nssv2899683, nssv2899623, nssv2899660, nssv2898840, nssv2899721, nssv2899673, nssv2899686, nssv2899718, nssv2899602, nssv2899707, nssv2899714, nssv2899685, nssv2899613, nssv2898849, nssv2899738, nssv2899711, nssv2899730, nssv2899621, nssv2899605, nssv2898863, nssv2899617, nssv2899667, nssv2899712, nssv2899641, nssv2899691, nssv2899637, nssv2899684, nssv2899610, nssv2899665, nssv2899649, nssv2898847, nssv2899607, nssv2898862, nssv2899661, nssv2898845, nssv2899655, nssv2899656, nssv2898857, nssv2899724, nssv2899662, nssv2898850, nssv2899735, nssv2899687, nssv2899734, nssv2899728, nssv2898848, nssv2898859, nssv2898837, nssv2899722, nssv2899731, nssv2899713, nssv2899690, nssv2899635, nssv2899679, nssv2898853, nssv2898860, nssv2898851, nssv2899663, nssv2899693, nssv2899654, nssv2899627, nssv2898854, nssv2899677, nssv2899675, nssv2898852, nssv2899650, nssv2899696, nssv2899694, nssv2899614, nssv2899638, nssv2899676, nssv2899608, nssv2899688, nssv2899626, nssv2899639, nssv2899630, nssv2899609, nssv2899651, nssv2899678, nssv2899652, nssv2898856, nssv2899647, nssv2899681, nssv2899708, nssv2899645, nssv2898846, nssv2899702, nssv2899697, nssv2899657, nssv2899680, nssv2899701, nssv2899653, nssv2899625, nssv2899727, nssv2899719, nssv2899643, nssv2899692, nssv2899628, nssv2898855, nssv2898843, nssv2899672, nssv2899669, nssv2899629, nssv2899729, nssv2899664, nssv2899709, nssv2899682, nssv2899603, nssv2899715, nssv2899612, nssv2899668, nssv2899670, nssv2899644, nssv2899618, nssv2899700, nssv2899620
SamplesNA18497, NA19258, NA19222, NA21636, NA21317, NA21477, NA21488, NA18924, NA19249, NA19204, NA18862, NA18861, NA12414, NA18855, NA18507, NA19145, NA18917, NA19092, NA18486, NA21648, NA21717, NA18925, NA21475, NA21360, NA21635, NA19098, NA21522, NA18510, NA19127, NA19192, NA19171, NA18519, NA19201, NA18489, NA21526, NA19191, NA18923, NA19198, NA18860, NA18916, NA21479, NA19138, NA21365, NA21391, NA19130, NA19199, NA18874, NA18868, NA21512, NA21454, NA19137, NA19235, NA19207, NA19172, NA19128, NA21478, NA19159, NA19189, NA21601, NA19239, NA19209, NA21634, NA18908, NA19200, NA21494, NA21599, NA21480, NA21313, NA19247, NA19210, NA18934, NA19194, NA19175, NA19152, NA18859, NA19205, NA18871, NA19103, NA18503, NA19097, NA10838, NA21366, NA21485, NA19208, NA19179, NA19221, NA12818, NA19177, NA19142, NA19118, NA19150, NA18875, NA19181, NA19151, NA18499, NA18930, NA19113, NA19154, NA18857, NA18853, NA19099, NA19101, NA19257, NA19225, NA18523, NA21583, NA19095, NA19094, NA19206, NA19183, NA18909, NA19115, NA19108, NA19256, NA19149, NA19147, NA18517, NA18863, NA19140, NA19240, NA19174, NA19100, NA19144, NA21615, NA21390, NA19193, NA18869, NA21388, NA18911, NA19182, NA19143, NA19117, NA18501, NA19109, NA19248, NA21580, NA19223, NA19178, NA19173, NA19093, NA18509, NA18500, NA12830, NA18506, NA21581, NA18873, NA19096, NA18854, NA21384, NA21312, NA18872, NA21389, NA21490, NA18852, NA19129, NA19224, NA19146, NA21487, NA18511, NA21514, NA18522, NA07034, NA19214, NA19153
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514149
Frequency
Sample Size2366
Observed Gain0
Observed Loss164
Observed Complex0
Frequencyn/a


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