A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14439



Internal ID15484554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71112128..71129844hg38UCSC Ensembl
Outerchr5:71111471..71130373hg38UCSC Ensembl
Innerchr5:70407955..70425671hg19UCSC Ensembl
Outerchr5:70407298..70426200hg19UCSC Ensembl
Innerchr5:70443711..70461427hg18UCSC Ensembl
Outerchr5:70443054..70461956hg18UCSC Ensembl
Innerchr5:70443711..70461427hg17UCSC Ensembl
Outerchr5:70443054..70461956hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3818903
hg1918903
hg1818903
hg1718903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12740
Known GenesNAIP
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)nssv14439
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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