A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18437



Internal ID15836287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120009595..120085253hg38UCSC Ensembl
Outerchr1:120008716..120086108hg38UCSC Ensembl
Innerchr1:120552218..120627854hg19UCSC Ensembl
Outerchr1:120551339..120628709hg19UCSC Ensembl
Innerchr1:120353741..120429377hg18UCSC Ensembl
Outerchr1:120352862..120430232hg18UCSC Ensembl
Innerchr1:120264260..120339896hg17UCSC Ensembl
Outerchr1:120263381..120340751hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3877393
hg1977371
hg1877371
hg1777371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10683
Supporting Variants
SamplesNA18563
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)nssv18437
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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