A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14499



Internal ID15484580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71249231..71364915hg38UCSC Ensembl
Outerchr5:71248296..71365428hg38UCSC Ensembl
Innerchr5:70545058..70660742hg19UCSC Ensembl
Outerchr5:70544123..70661255hg19UCSC Ensembl
Innerchr5:70580814..70696498hg18UCSC Ensembl
Outerchr5:70579879..70697011hg18UCSC Ensembl
Innerchr5:70580814..70696498hg17UCSC Ensembl
Outerchr5:70579879..70697011hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38117133
hg19117133
hg18117133
hg17117133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12740
Known GenesGUSBP9
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)nssv14499
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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