A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9830



Internal ID15847742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63961342..63981916hg38UCSC Ensembl
Outerchr20:62592695..62613269hg19UCSC Ensembl
Outerchr20:62063139..62083713hg18UCSC Ensembl
Outerchr20:62063139..62083713hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3820575
hg1920575
hg1820575
hg1720575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22727, nssv27593, nssv27138, nssv27953, nssv24211, nssv24704, nssv22570, nssv26155, nssv27798, nssv27221, nssv26213, nssv25668, nssv25596, nssv24975, nssv28650, nssv27753, nssv25480, nssv24909, nssv22451, nssv25224, nssv25252, nssv24433, nssv25691, nssv26959, nssv25678, nssv25540
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18564, NA19240, NA19173, NA18972, NA18552
Known GenesPRPF6, SAMD10, ZNF512B
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)nsv9830
Frequency
Sample Size31
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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