A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9336



Internal ID15847248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:6188370..6197129hg38UCSC Ensembl
Outerchr2:6328502..6337261hg19UCSC Ensembl
Outerchr2:6245953..6254712hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv25159, nssv24286, nssv24882
SamplesNA07048, NA10863, NA18537
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)nsv9336
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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