A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10138



Internal ID15845101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:122690114..122726323hg38UCSC Ensembl
Outerchr2:123447690..123483899hg19UCSC Ensembl
Outerchr2:123164160..123200369hg18UCSC Ensembl
Outerchr2:123163920..123200129hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3836210
hg1936210
hg1836210
hg1736210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28095, nssv11573, nssv27519, nssv26713, nssv28395, nssv26854, nssv27392, nssv28137, nssv28747, nssv28733
SamplesNA11830, NA12802, NA10839, NA10847, NA12872, NA18537, NA18853, NA18564, 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)nsv10138
Frequency
Sample Size31
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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