A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13323



Internal ID15481201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:691510..778107hg38UCSC Ensembl
Outerchr5:690221..779566hg38UCSC Ensembl
Innerchr5:691625..778222hg19UCSC Ensembl
Outerchr5:690336..779681hg19UCSC Ensembl
Innerchr5:744625..831222hg18UCSC Ensembl
Outerchr5:743336..832681hg18UCSC Ensembl
Innerchr5:744625..831222hg17UCSC Ensembl
Outerchr5:743336..832681hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3889346
hg1989346
hg1889346
hg1789346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA07048
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)nssv13323
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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