A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20760



Internal ID15843896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120068384..120071411hg38UCSC Ensembl
Outerchr1:120067929..120071822hg38UCSC Ensembl
Innerchr1:120610998..120614025hg19UCSC Ensembl
Outerchr1:120610543..120614436hg19UCSC Ensembl
Innerchr1:120412521..120415548hg18UCSC Ensembl
Outerchr1:120412066..120415959hg18UCSC Ensembl
Innerchr1:120323040..120326067hg17UCSC Ensembl
Outerchr1:120322585..120326478hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg383894
hg193894
hg183894
hg173894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10683
Supporting Variants
SamplesNA19221
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)nssv20760
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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