A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10169



Internal ID15845132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130410152..130424075hg38UCSC Ensembl
Outerchr2:131167725..131181648hg19UCSC Ensembl
Outerchr2:130884195..130898118hg18UCSC Ensembl
Outerchr2:130883955..130897878hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3813924
hg1913924
hg1813924
hg1713924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28908, nssv29034, nssv27637, nssv27937, nssv28779, nssv28428, nssv29105, nssv28916, nssv28900
SamplesNA18502, NA18980, NA18504, NA12155, NA18860, NA19132, NA19144, NA12740, NA19173
Known GenesFAR2P2
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)nsv10169
Frequency
Sample Size31
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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