A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13329



Internal ID15484674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:896641..899736hg38UCSC Ensembl
Outerchr5:895067..900067hg38UCSC Ensembl
Innerchr5:896756..899851hg19UCSC Ensembl
Outerchr5:895182..900182hg19UCSC Ensembl
Innerchr5:949756..952851hg18UCSC Ensembl
Outerchr5:948182..953182hg18UCSC Ensembl
Innerchr5:949756..952851hg17UCSC Ensembl
Outerchr5:948182..953182hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385001
hg195001
hg185001
hg175001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA12740
Known GenesTRIP13
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)nssv13329
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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