A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13038



Internal ID15836484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:467944..468312hg38UCSC Ensembl
Outerchr5:467313..468827hg38UCSC Ensembl
Innerchr5:468059..468427hg19UCSC Ensembl
Outerchr5:467428..468942hg19UCSC Ensembl
Innerchr5:521059..521427hg18UCSC Ensembl
Outerchr5:520428..521942hg18UCSC Ensembl
Innerchr5:521059..521427hg17UCSC Ensembl
Outerchr5:520428..521942hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381515
hg191515
hg181515
hg171515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10647
Supporting Variants
SamplesNA18564
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)nssv13038
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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