A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13078



Internal ID15496099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:210686..237196hg38UCSC Ensembl
Outerchr5:209651..237752hg38UCSC Ensembl
Innerchr5:210801..237311hg19UCSC Ensembl
Outerchr5:209766..237867hg19UCSC Ensembl
Innerchr5:263801..290311hg18UCSC Ensembl
Outerchr5:262766..290867hg18UCSC Ensembl
Innerchr5:263801..290311hg17UCSC Ensembl
Outerchr5:262766..290867hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3828102
hg1928102
hg1828102
hg1728102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10644
Supporting Variants
SamplesNA19144
Known GenesCCDC127, SDHA
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)nssv13078
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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