A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8889



Internal ID15500115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2128269..2148975hg38UCSC Ensembl
Outerchr12:2237435..2258141hg19UCSC Ensembl
Outerchr12:2107696..2128402hg18UCSC Ensembl
Outerchr12:2107696..2128402hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3820707
hg1920707
hg1820707
hg1720707
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23152, nssv20210, nssv20669, nssv20166, nssv20296, nssv23421, nssv19292, nssv21248, nssv23727, nssv20807, nssv18739, nssv18695, nssv20478, nssv25559, nssv18862, nssv19704, nssv24025, nssv21568, nssv20625, nssv20979, nssv22663, nssv20343, nssv22681, nssv18491, nssv20126, nssv20545, nssv18250, nssv23322
SamplesNA12802, NA18975, NA19173, NA10847, NA18972, NA18517, NA19144, NA18860, NA07029, NA10863, NA12155, NA18563, NA12740, NA07048, NA18537, NA18572, NA18502, NA12872, NA18504, NA18564, NA18942, NA19221, NA18552, NA19132, NA19240, NA18853, NA19007, NA18980
Known GenesCACNA1C
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)nsv8889
Frequency
Sample Size31
Observed Gain27
Observed Loss1
Observed Complex0
Frequencyn/a


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