A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13893



Internal ID15481096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70934170..70955873hg38UCSC Ensembl
Outerchr5:70930280..70963333hg38UCSC Ensembl
Innerchr5:70229997..70251700hg19UCSC Ensembl
Outerchr5:70226107..70259160hg19UCSC Ensembl
Innerchr5:70265753..70287456hg18UCSC Ensembl
Outerchr5:70261863..70294916hg18UCSC Ensembl
Innerchr5:70265753..70287456hg17UCSC Ensembl
Outerchr5:70261863..70294916hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3833054
hg1933054
hg1833054
hg1733054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA07048
Known GenesSMN1, 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)nssv13893
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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