A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10249



Internal ID15845212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:6476182..6613293hg38UCSC Ensembl
Outerchr3:6517869..6654980hg19UCSC Ensembl
Outerchr3:6492869..6629980hg18UCSC Ensembl
Outerchr3:6492869..6629980hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38137112
hg19137112
hg18137112
hg17137112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv29071, nssv28341, nssv28735, nssv28478
SamplesNA10839, NA10863, NA12872, NA18572
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)nsv10249
Frequency
Sample Size31
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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