A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11993



Internal ID15492517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131327043..131361010hg38UCSC Ensembl
Outerchr2:131326791..131361694hg38UCSC Ensembl
Innerchr2:132084616..132118583hg19UCSC Ensembl
Outerchr2:132084364..132119267hg19UCSC Ensembl
Innerchr2:131801086..131835053hg18UCSC Ensembl
Outerchr2:131800834..131835737hg18UCSC Ensembl
Innerchr2:131918348..131952315hg17UCSC Ensembl
Outerchr2:131918096..131952999hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3834904
hg1934904
hg1834904
hg1734904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18972
Known GenesWTH3DI
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)nssv11993
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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