A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10709



Internal ID15498986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80649980..80653056hg38UCSC Ensembl
Outerchr5:79945799..79948875hg19UCSC Ensembl
Outerchr5:79981555..79984631hg18UCSC Ensembl
Outerchr5:79981555..79984631hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg383077
hg193077
hg183077
hg173077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13217, nssv13595
SamplesNA10847, NA18563
Known GenesDHFR, MTRNR2L2
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)nsv10709
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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