A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8888



Internal ID15500114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:757189..765967hg38UCSC Ensembl
Outerchr12:866355..875133hg19UCSC Ensembl
Outerchr12:736616..745394hg18UCSC Ensembl
Outerchr12:736616..745394hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg388779
hg198779
hg188779
hg178779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20448, nssv23124, nssv20595, nssv18461, nssv20515, nssv18665, nssv19262, nssv22651, nssv20313, nssv20639, nssv22633, nssv25536, nssv23968, nssv23294, nssv20266, nssv23363, nssv19674, nssv23669, nssv20066, nssv20180, nssv20136, nssv18832, nssv18709, nssv21157, nssv21538, nssv20374
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA19173, NA18972, NA18552
Known GenesWNK1
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)nsv8888
Frequency
Sample Size31
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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