A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14963



Internal ID15492616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:678070..683337hg38UCSC Ensembl
Outerchr5:677765..683838hg38UCSC Ensembl
Innerchr5:678185..683452hg19UCSC Ensembl
Outerchr5:677880..683953hg19UCSC Ensembl
Innerchr5:731185..736452hg18UCSC Ensembl
Outerchr5:730880..736953hg18UCSC Ensembl
Innerchr5:731185..736452hg17UCSC Ensembl
Outerchr5:730880..736953hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg386074
hg196074
hg186074
hg176074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18972
Known GenesTPPP
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)nssv14963
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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