A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14199



Internal ID15484624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70487068..70534035hg38UCSC Ensembl
Outerchr5:70484777..70534396hg38UCSC Ensembl
Innerchr5:69782895..69829862hg19UCSC Ensembl
Outerchr5:69780604..69830223hg19UCSC Ensembl
Innerchr5:69818651..69865618hg18UCSC Ensembl
Outerchr5:69816360..69865979hg18UCSC Ensembl
Innerchr5:69818651..69865618hg17UCSC Ensembl
Outerchr5:69816360..69865979hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3849620
hg1949620
hg1849620
hg1749620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12740
Known GenesGUSBP9, LOC441081, SMA4, SMA5
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)nssv14199
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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