A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10683



Internal ID15845646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119987952..120088319hg38UCSC Ensembl
Outerchr1:120530575..120630920hg19UCSC Ensembl
Outerchr1:120332098..120432443hg18UCSC Ensembl
Outerchr1:120242617..120342962hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38100368
hg19100346
hg18100346
hg17100346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23370, nssv16751, nssv24294, nssv16417, nssv17408, nssv18086, nssv15445, nssv17089, nssv16762, nssv18437, nssv17403, nssv20760, nssv18062, nssv18422
SamplesNA11830, NA18980, NA07029, NA12155, NA18563, NA18942, NA07048, NA10839, NA19007, NA12872, NA18572, NA19221, NA18972
Known GenesNOTCH2
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)nsv10683
Frequency
Sample Size31
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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