A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17408



Internal ID15830600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119991513..120087660hg38UCSC Ensembl
Outerchr1:119988597..120087899hg38UCSC Ensembl
Innerchr1:120534136..120630261hg19UCSC Ensembl
Outerchr1:120531220..120630500hg19UCSC Ensembl
Innerchr1:120335659..120431784hg18UCSC Ensembl
Outerchr1:120332743..120432023hg18UCSC Ensembl
Innerchr1:120246178..120342303hg17UCSC Ensembl
Outerchr1:120243262..120342542hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3899303
hg1999281
hg1899281
hg1799281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10683
Supporting Variants
SamplesNA12155
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)nssv17408
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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