A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14682



Internal ID15485941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70938608..71009954hg38UCSC Ensembl
Outerchr5:70937711..71010823hg38UCSC Ensembl
Innerchr5:70234435..70305781hg19UCSC Ensembl
Outerchr5:70233538..70306650hg19UCSC Ensembl
Innerchr5:70270191..70341537hg18UCSC Ensembl
Outerchr5:70269294..70342406hg18UCSC Ensembl
Innerchr5:70270191..70341537hg17UCSC Ensembl
Outerchr5:70269294..70342406hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3873113
hg1973113
hg1873113
hg1773113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18502
Known GenesNAIP, SMN1, SMN2
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)nssv14682
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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