A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11468



Internal ID15483746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131176729..131189434hg38UCSC Ensembl
Outerchr2:131158153..131189977hg38UCSC Ensembl
Innerchr2:131934302..131947007hg19UCSC Ensembl
Outerchr2:131915726..131947550hg19UCSC Ensembl
Innerchr2:131650772..131663477hg18UCSC Ensembl
Outerchr2:131632196..131664020hg18UCSC Ensembl
Innerchr2:131768034..131780739hg17UCSC Ensembl
Outerchr2:131749458..131781282hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3831825
hg1931825
hg1831825
hg1731825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA12155
Known Genes
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)nssv11468
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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