A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13683



Internal ID15481537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69980657..70137522hg38UCSC Ensembl
Outerchr5:69980509..70137672hg38UCSC Ensembl
Innerchr5:69276484..69433349hg19UCSC Ensembl
Outerchr5:69276336..69433499hg19UCSC Ensembl
Innerchr5:69312240..69469105hg18UCSC Ensembl
Outerchr5:69312092..69469255hg18UCSC Ensembl
Innerchr5:69312240..69469105hg17UCSC Ensembl
Outerchr5:69312092..69469255hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38157164
hg19157164
hg18157164
hg17157164
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA07048
Known GenesSERF1A, SERF1B, SMA4, 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)nssv13683
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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