A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13596



Internal ID15482908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70949355..70954539hg38UCSC Ensembl
Outerchr5:70947999..70955873hg38UCSC Ensembl
Innerchr5:70245182..70250366hg19UCSC Ensembl
Outerchr5:70243826..70251700hg19UCSC Ensembl
Innerchr5:70280938..70286122hg18UCSC Ensembl
Outerchr5:70279582..70287456hg18UCSC Ensembl
Innerchr5:70280938..70286122hg17UCSC Ensembl
Outerchr5:70279582..70287456hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg387875
hg197875
hg187875
hg177875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
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)nssv13596
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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