A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514324



Internal ID15466012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140844231..140859031hg38UCSC Ensembl
Innerchr5:140223816..140238616hg19UCSC Ensembl
Innerchr5:140204000..140218800hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3814801
hg1914801
hg1814801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2917693, nssv2917705, nssv2917707, nssv2917688, nssv2917733, nssv2917684, nssv2917703, nssv2917687, nssv2917735, nssv2917683, nssv2917706, nssv2917666, nssv2917672, nssv2917712, nssv2917668, nssv2917681, nssv2917664, nssv2917699, nssv2917669, nssv2917665, nssv2917708, nssv2917738, nssv2917740, nssv2917743, nssv2917724, nssv2917700, nssv2917739, nssv2917718, nssv2917731, nssv2917714, nssv2917717, nssv2917676, nssv2917730, nssv2917673, nssv2917713, nssv2917737, nssv2917696, nssv2917690, nssv2917695, nssv2917671, nssv2917674, nssv2917728, nssv2917702, nssv2917742, nssv2917670, nssv2917698, nssv2917732, nssv2917726, nssv2917716, nssv2917736, nssv2917710, nssv2917686, nssv2917685, nssv2917709, nssv2917719, nssv2917667, nssv2917701, nssv2917675, nssv2917727, nssv2917723, nssv2917722, nssv2917691, nssv2917721, nssv2917689, nssv2917694, nssv2917679, nssv2917715, nssv2917697, nssv2917682, nssv2917734, nssv2917678, nssv2917677, nssv2917704, nssv2917729, nssv2917711, nssv2917720, nssv2917680, nssv2917725, nssv2917692, nssv2917741
SamplesNA19141, NA18861, NA10851, NA12767, NA12236, NA21476, NA12344, NA21717, NA12801, NA21301, NA18563, NA19005, NA12812, NA21359, NA12287, NA21365, NA21391, NA12282, NA07019, NA18874, NA21512, NA21525, NA19235, NA19172, NA12815, NA18990, NA10855, NA21523, NA21634, NA21313, NA12489, NA07022, NA19236, NA18637, NA12376, NA21438, NA21366, NA19179, NA12818, NA11919, NA19142, NA18518, NA12829, NA19151, NA11894, NA10830, NA12056, NA12827, NA19099, NA19252, NA12778, NA21608, NA06995, NA12716, NA19149, NA21425, NA19100, NA21718, NA21615, NA21390, NA10840, NA07037, NA21361, NA12347, NA21404, NA10843, NA19173, NA12749, NA18500, NA19185, NA18609, NA21581, NA21312, NA07056, NA18511, NA21514, NA21440, NA10864, NA12776, NA11832
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514324
Frequency
Sample Size2366
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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