A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514230



Internal ID15465922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86055343..86058719hg38UCSC Ensembl
Innerchr4:86976496..86979872hg19UCSC Ensembl
Innerchr4:87195520..87198896hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg383377
hg193377
hg183377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2912709, nssv2912753, nssv2912734, nssv2912702, nssv2912696, nssv2912762, nssv2912741, nssv2912738, nssv2912737, nssv2912746, nssv2912771, nssv2912757, nssv2912710, nssv2912772, nssv2912731, nssv2912770, nssv2912765, nssv2912750, nssv2912735, nssv2912725, nssv2912778, nssv2912707, nssv2912729, nssv2912754, nssv2912733, nssv2912764, nssv2912755, nssv2912730, nssv2912723, nssv2912703, nssv2912769, nssv2912704, nssv2912713, nssv2912773, nssv2912763, nssv2912758, nssv2912752, nssv2912712, nssv2912720, nssv2912726, nssv2912751, nssv2912716, nssv2912776, nssv2912774, nssv2912761, nssv2912768, nssv2912767, nssv2912756, nssv2912732, nssv2912698, nssv2912715, nssv2912748, nssv2912717, nssv2912700, nssv2912701, nssv2912777, nssv2912742, nssv2912722, nssv2912721, nssv2912718, nssv2912705, nssv2912743, nssv2912699, nssv2912719, nssv2912714, nssv2912727, nssv2912766, nssv2912745, nssv2912697, nssv2912739, nssv2912740, nssv2912728, nssv2912760, nssv2912706, nssv2912708, nssv2912724, nssv2912711, nssv2912744, nssv2912759, nssv2912779, nssv2912747, nssv2912775, nssv2912736, nssv2912749
SamplesNA18497, NA11830, NA21524, NA21488, NA21383, NA18862, NA18508, NA21310, NA18486, NA12801, NA12146, NA21475, NA19190, NA19098, NA18510, NA12750, NA07357, NA19192, NA12812, NA18489, NA21526, NA19191, NA18860, NA12891, NA18916, NA21479, NA18498, NA21381, NA19130, NA12005, NA19123, NA21454, NA21525, NA19159, NA21716, NA21523, NA12828, NA18908, NA10847, NA21480, NA19194, NA12753, NA12878, NA18485, NA19097, NA21485, NA18907, NA21441, NA19142, NA19118, NA19151, NA18499, NA18930, NA18856, NA18857, NA12817, NA10852, NA19252, NA18523, NA19132, NA21309, NA12546, NA19206, NA11881, NA19108, NA19149, NA18863, NA19140, NA19240, NA19174, NA12763, NA19117, NA19109, NA19248, NA19185, NA18506, NA21486, NA19096, NA21455, NA19121, NA18488, NA21487, NA12154, NA12776
Known GenesMAPK10
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514230
Frequency
Sample Size2366
Observed Gain0
Observed Loss84
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer