A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14221



Internal ID15497926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69534047..69616636hg38UCSC Ensembl
Outerchr5:69533187..69617219hg38UCSC Ensembl
Innerchr5:68829874..68912463hg19UCSC Ensembl
Outerchr5:68829014..68913046hg19UCSC Ensembl
Innerchr5:68865630..68948219hg18UCSC Ensembl
Outerchr5:68864770..68948802hg18UCSC Ensembl
Innerchr5:68865630..68948219hg17UCSC Ensembl
Outerchr5:68864770..68948802hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3884033
hg1984033
hg1884033
hg1784033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19240
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, OCLN, 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)nssv14221
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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