A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9130



Internal ID15847042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:32482738..32489574hg38UCSC Ensembl
Outerchr14:32951944..32958780hg19UCSC Ensembl
Outerchr14:32021695..32028531hg18UCSC Ensembl
Outerchr14:32021695..32028531hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386837
hg196837
hg186837
hg176837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21945, nssv24684, nssv21484, nssv21106, nssv20784, nssv22824, nssv21290, nssv26703, nssv23951, nssv21033, nssv21917, nssv24670, nssv24810, nssv21959, nssv23659, nssv19732, nssv19541
SamplesNA18502, NA18504, NA18563, NA18942, NA07048, NA10839, NA18975, NA12872, NA19221, NA18537, NA18853, NA19132, NA18517, NA19240, NA19144, NA19173, NA18552
Known GenesAKAP6
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)nsv9130
Frequency
Sample Size31
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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