A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13216



Internal ID15488810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69572268..69582481hg38UCSC Ensembl
Outerchr5:69570858..69582719hg38UCSC Ensembl
Innerchr5:68868095..68878308hg19UCSC Ensembl
Outerchr5:68866685..68878546hg19UCSC Ensembl
Innerchr5:68903851..68914064hg18UCSC Ensembl
Outerchr5:68902441..68914302hg18UCSC Ensembl
Innerchr5:68903851..68914064hg17UCSC Ensembl
Outerchr5:68902441..68914302hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3811862
hg1911862
hg1811862
hg1711862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, SMA4
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)nssv13216
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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