A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29015



Internal ID15830721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129983580..129993027hg38UCSC Ensembl
Outerchr2:129982996..129993467hg38UCSC Ensembl
Innerchr2:130741153..130750600hg19UCSC Ensembl
Outerchr2:130740569..130751040hg19UCSC Ensembl
Innerchr2:130457623..130467070hg18UCSC Ensembl
Outerchr2:130457039..130467510hg18UCSC Ensembl
Innerchr2:130457383..130466830hg17UCSC Ensembl
Outerchr2:130456799..130467270hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3810472
hg1910472
hg1810472
hg1710472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
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)nssv29015
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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