A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10322



Internal ID15845285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130001097..130006088hg38UCSC Ensembl
Outerchr3:129719940..129724931hg19UCSC Ensembl
Outerchr3:131202630..131207621hg18UCSC Ensembl
Outerchr3:131202638..131207629hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384992
hg194992
hg184992
hg174992
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv29053, nssv12141, nssv12338, nssv12983, nssv12162
SamplesNA18502, NA12155, NA18860, NA18972, NA18552
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)nsv10322
Frequency
Sample Size31
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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