A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17089



Internal ID15837092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119991513..120087899hg38UCSC Ensembl
Outerchr1:119988597..120088319hg38UCSC Ensembl
Innerchr1:120534136..120630500hg19UCSC Ensembl
Outerchr1:120531220..120630920hg19UCSC Ensembl
Innerchr1:120335659..120432023hg18UCSC Ensembl
Outerchr1:120332743..120432443hg18UCSC Ensembl
Innerchr1:120246178..120342542hg17UCSC Ensembl
Outerchr1:120243262..120342962hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3899723
hg1999701
hg1899701
hg1799701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10683
Supporting Variants
SamplesNA18572
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)nssv17089
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer