A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29068



Internal ID15844603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215545123..215545899hg38UCSC Ensembl
Outerchr2:215544495..215547081hg38UCSC Ensembl
Innerchr2:216409846..216410622hg19UCSC Ensembl
Outerchr2:216409218..216411804hg19UCSC Ensembl
Innerchr2:216118091..216118867hg18UCSC Ensembl
Outerchr2:216117463..216120049hg18UCSC Ensembl
Innerchr2:216235352..216236128hg17UCSC Ensembl
Outerchr2:216234724..216237310hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382587
hg192587
hg182587
hg172587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10219
Supporting Variants
SamplesNA19240
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)nssv29068
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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