A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14652



Internal ID15485960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70590040..70711446hg38UCSC Ensembl
Outerchr5:70589796..70712044hg38UCSC Ensembl
Innerchr5:69885867..70007273hg19UCSC Ensembl
Outerchr5:69885623..70007871hg19UCSC Ensembl
Innerchr5:69921623..70043029hg18UCSC Ensembl
Outerchr5:69921379..70043627hg18UCSC Ensembl
Innerchr5:69921623..70043029hg17UCSC Ensembl
Outerchr5:69921379..70043627hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38122249
hg19122249
hg18122249
hg17122249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18502
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)nssv14652
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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