A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13536



Internal ID15482875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70822715..70824496hg38UCSC Ensembl
Outerchr5:70822645..70824986hg38UCSC Ensembl
Innerchr5:70118542..70120323hg19UCSC Ensembl
Outerchr5:70118472..70120813hg19UCSC Ensembl
Innerchr5:70154298..70156079hg18UCSC Ensembl
Outerchr5:70154228..70156569hg18UCSC Ensembl
Innerchr5:70154298..70156079hg17UCSC Ensembl
Outerchr5:70154228..70156569hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382342
hg192342
hg182342
hg172342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
Known GenesSMA4
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)nssv13536
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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