A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11850



Internal ID15844233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130029244..130036709hg38UCSC Ensembl
Outerchr2:130028705..130036868hg38UCSC Ensembl
Innerchr2:130786817..130794282hg19UCSC Ensembl
Outerchr2:130786278..130794441hg19UCSC Ensembl
Innerchr2:130503287..130510752hg18UCSC Ensembl
Outerchr2:130502748..130510911hg18UCSC Ensembl
Innerchr2:130503047..130510512hg17UCSC Ensembl
Outerchr2:130502508..130510671hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg388164
hg198164
hg188164
hg178164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10159
Supporting Variants
SamplesNA19221
Known GenesFAR2P1
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)nssv11850
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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