A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14169



Internal ID15484329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70293288..70484777hg38UCSC Ensembl
Outerchr5:70292996..70487068hg38UCSC Ensembl
Innerchr5:69589115..69780604hg19UCSC Ensembl
Outerchr5:69588823..69782895hg19UCSC Ensembl
Innerchr5:69624871..69816360hg18UCSC Ensembl
Outerchr5:69624579..69818651hg18UCSC Ensembl
Innerchr5:69624871..69816360hg17UCSC Ensembl
Outerchr5:69624579..69818651hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38194073
hg19194073
hg18194073
hg17194073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12740
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, 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)nssv14169
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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