A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13589



Internal ID15496683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:948429..949529hg38UCSC Ensembl
Outerchr5:947736..952071hg38UCSC Ensembl
Innerchr5:948544..949644hg19UCSC Ensembl
Outerchr5:947851..952186hg19UCSC Ensembl
Innerchr5:1001544..1002644hg18UCSC Ensembl
Outerchr5:1000851..1005186hg18UCSC Ensembl
Innerchr5:1001544..1002644hg17UCSC Ensembl
Outerchr5:1000851..1005186hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384336
hg194336
hg184336
hg174336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA19173
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)nssv13589
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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