A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13983



Internal ID15481204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71332339..71344502hg38UCSC Ensembl
Outerchr5:71331567..71344611hg38UCSC Ensembl
Innerchr5:70628166..70640329hg19UCSC Ensembl
Outerchr5:70627394..70640438hg19UCSC Ensembl
Innerchr5:70663922..70676085hg18UCSC Ensembl
Outerchr5:70663150..70676194hg18UCSC Ensembl
Innerchr5:70663922..70676085hg17UCSC Ensembl
Outerchr5:70663150..70676194hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3813045
hg1913045
hg1813045
hg1713045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA07048
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)nssv13983
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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