A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10158



Internal ID15845121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130020443..130029244hg38UCSC Ensembl
Outerchr2:130778016..130786817hg19UCSC Ensembl
Outerchr2:130494486..130503287hg18UCSC Ensembl
Outerchr2:130494246..130503047hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg388802
hg198802
hg188802
hg178802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28870, nssv27415, nssv28848, nssv28593, nssv28856, nssv28339
SamplesNA18504, NA18860, NA18975, NA19144, NA12740, NA19173
Known GenesFAR2P1
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)nsv10158
Frequency
Sample Size31
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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