A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13608



Internal ID15489664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70972211..70977031hg38UCSC Ensembl
Outerchr5:70971772..70978597hg38UCSC Ensembl
Innerchr5:70268038..70272858hg19UCSC Ensembl
Outerchr5:70267599..70274424hg19UCSC Ensembl
Innerchr5:70303794..70308614hg18UCSC Ensembl
Outerchr5:70303355..70310180hg18UCSC Ensembl
Innerchr5:70303794..70308614hg17UCSC Ensembl
Outerchr5:70303355..70310180hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386826
hg196826
hg186826
hg176826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18564
Known GenesNAIP
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)nssv13608
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