A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13475



Internal ID15482235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71156404..71180024hg38UCSC Ensembl
Outerchr5:71156165..71180627hg38UCSC Ensembl
Innerchr5:70452231..70475851hg19UCSC Ensembl
Outerchr5:70451992..70476454hg19UCSC Ensembl
Innerchr5:70487987..70511607hg18UCSC Ensembl
Outerchr5:70487748..70512210hg18UCSC Ensembl
Innerchr5:70487987..70511607hg17UCSC Ensembl
Outerchr5:70487748..70512210hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3824463
hg1924463
hg1824463
hg1724463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known Genes
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)nssv13475
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer