A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26570



Internal ID15840973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73611550..73613338hg38UCSC Ensembl
Outerchr2:73611054..73614048hg38UCSC Ensembl
Innerchr2:73838677..73840465hg19UCSC Ensembl
Outerchr2:73838181..73841175hg19UCSC Ensembl
Innerchr2:73692185..73693973hg18UCSC Ensembl
Outerchr2:73691689..73694683hg18UCSC Ensembl
Innerchr2:73750332..73752120hg17UCSC Ensembl
Outerchr2:73749836..73752830hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg382995
hg192995
hg182995
hg172995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10013
Supporting Variants
SamplesNA19007
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)nssv26570
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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