A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13576



Internal ID15488767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70811404..70850422hg38UCSC Ensembl
Outerchr5:70809077..70850536hg38UCSC Ensembl
Innerchr5:70107231..70146249hg19UCSC Ensembl
Outerchr5:70104904..70146363hg19UCSC Ensembl
Innerchr5:70142987..70182005hg18UCSC Ensembl
Outerchr5:70140660..70182119hg18UCSC Ensembl
Innerchr5:70142987..70182005hg17UCSC Ensembl
Outerchr5:70140660..70182119hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3841460
hg1941460
hg1841460
hg1741460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
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)nssv13576
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