A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24882



Internal ID15829288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:6191484..6194105hg38UCSC Ensembl
Outerchr2:6188370..6197129hg38UCSC Ensembl
Innerchr2:6331616..6334237hg19UCSC Ensembl
Outerchr2:6328502..6337261hg19UCSC Ensembl
Innerchr2:6249067..6251688hg18UCSC Ensembl
Outerchr2:6245953..6254712hg18UCSC Ensembl
Innerchr2:6282214..6284835hg17UCSC Ensembl
Outerchr2:6279100..6287859hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg388760
hg198760
hg188760
hg178760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9336
Supporting Variants
SamplesNA10863
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)nssv24882
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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