A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514428



Internal ID15812839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79842380..79852124hg38UCSC Ensembl
Innerchr7:79471696..79481440hg19UCSC Ensembl
Innerchr7:79309632..79319376hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg389745
hg199745
hg189745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2951725, nssv2951719, nssv2951688, nssv2951716, nssv2951653, nssv2951709, nssv2951691, nssv2951675, nssv2951713, nssv2951718, nssv2951671, nssv2951694, nssv2951703, nssv2951681, nssv2951649, nssv2951724, nssv2951737, nssv2951720, nssv2951736, nssv2951658, nssv2951647, nssv2951642, nssv2951723, nssv2951702, nssv2951722, nssv2951704, nssv2951667, nssv2951687, nssv2951728, nssv2951721, nssv2951732, nssv2951661, nssv2951700, nssv2951680, nssv2951665, nssv2951677, nssv2951735, nssv2951693, nssv2951668, nssv2951734, nssv2951717, nssv2951662, nssv2951715, nssv2951708, nssv2951656, nssv2951711, nssv2951727, nssv2951684, nssv2951686, nssv2951663, nssv2951685, nssv2951659, nssv2951674, nssv2951714, nssv2951652, nssv2951678, nssv2951646, nssv2951683, nssv2951648, nssv2951701, nssv2951726, nssv2951692, nssv2951673, nssv2951690, nssv2951689, nssv2951664, nssv2951655, nssv2951650, nssv2951672, nssv2951729, nssv2951712, nssv2951707, nssv2951730, nssv2951651, nssv2951654, nssv2951697, nssv2951657, nssv2951666, nssv2951695, nssv2951660, nssv2951733, nssv2951644, nssv2951670, nssv2951705, nssv2951645, nssv2951706, nssv2951641, nssv2951710, nssv2951679, nssv2951643, nssv2951669, nssv2951698, nssv2951696, nssv2951699, nssv2951676, nssv2951731, nssv2951682
SamplesNA19258, NA19237, NA19222, NA21636, NA21686, NA21477, NA19186, NA18924, NA19204, NA18862, NA18861, NA18855, NA18507, NA21648, NA18925, NA18504, NA21475, NA19098, NA18510, NA19192, NA18489, NA18923, NA18860, NA19131, NA18916, NA19197, NA19138, NA18498, NA21381, NA21447, NA19180, NA18874, NA19207, NA19172, NA19128, NA19159, NA21716, NA21601, NA19239, NA21634, NA21442, NA21400, NA21599, NA21307, NA19210, NA19194, NA19152, NA19161, NA18933, NA19184, NA19205, NA19236, NA18871, NA19103, NA18503, NA19097, NA19208, NA19179, NA19221, NA18907, NA21441, NA19142, NA18875, NA18518, NA18930, NA19154, NA18857, NA19101, NA19257, NA19252, NA21583, NA19160, NA19132, NA19094, NA19206, NA19256, NA18863, NA19140, NA19240, NA19174, NA19100, NA19193, NA19143, NA19117, NA18501, NA19223, NA19178, NA19093, NA18500, NA18506, NA19102, NA19096, NA18872, NA19129, NA19146, NA18511, NA18522
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514428
Frequency
Sample Size2366
Observed Gain0
Observed Loss97
Observed Complex0
Frequencyn/a


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