A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9831



Internal ID15847743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:64011694..64020043hg38UCSC Ensembl
Outerchr20:62643047..62651396hg19UCSC Ensembl
Outerchr20:62113491..62121840hg18UCSC Ensembl
Outerchr20:62113491..62121840hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg388350
hg198350
hg188350
hg178350
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27959, nssv26232, nssv25730, nssv24459, nssv26613, nssv22786, nssv27178, nssv28681, nssv27714, nssv25690
SamplesNA11830, NA18980, NA07029, NA18860, NA18572, NA19221, NA18517, NA19240, NA19144, NA19173
Known GenesPRPF6
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)nsv9831
Frequency
Sample Size31
Observed Gain2
Observed Loss8
Observed Complex0
Frequencyn/a


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