A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10753



Internal ID15499030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140842575..140859579hg38UCSC Ensembl
Outerchr5:140222160..140239164hg19UCSC Ensembl
Outerchr5:140202344..140219348hg18UCSC Ensembl
Outerchr5:140202344..140219348hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3817005
hg1917005
hg1817005
hg1717005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14224, nssv13730, nssv16200, nssv15012, nssv13615, nssv13948, nssv14196, nssv16230, nssv12559, nssv15591, nssv13312, nssv14194, nssv13978, nssv13695, nssv14701, nssv15403, nssv14253, nssv14671, nssv13775, nssv13794, nssv16193, nssv13968, nssv14176, nssv14249, nssv12970, nssv15627, nssv14859, nssv14708, nssv13998, nssv14146, nssv13556, nssv13777, nssv13487, nssv13622, nssv14279, nssv12731, nssv13457, nssv14798, nssv15794
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173, NA18972, NA18552
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10753
Frequency
Sample Size31
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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