A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10219



Internal ID15845182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:215544495..215547081hg38UCSC Ensembl
Outerchr2:216409218..216411804hg19UCSC Ensembl
Outerchr2:216117463..216120049hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv29068
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)nsv10219
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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