A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24294



Internal ID15839616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120009595..120087899hg38UCSC Ensembl
Outerchr1:120008716..120088319hg38UCSC Ensembl
Innerchr1:120552218..120630500hg19UCSC Ensembl
Outerchr1:120551339..120630920hg19UCSC Ensembl
Innerchr1:120353741..120432023hg18UCSC Ensembl
Outerchr1:120352862..120432443hg18UCSC Ensembl
Innerchr1:120264260..120342542hg17UCSC Ensembl
Outerchr1:120263381..120342962hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3879604
hg1979582
hg1879582
hg1779582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10683
Supporting Variants
SamplesNA18972
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)nssv24294
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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