A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13684



Internal ID15482031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69945333..69964798hg38UCSC Ensembl
Outerchr5:69945113..69965520hg38UCSC Ensembl
Innerchr5:69241160..69260625hg19UCSC Ensembl
Outerchr5:69240940..69261347hg19UCSC Ensembl
Innerchr5:69276916..69296381hg18UCSC Ensembl
Outerchr5:69276696..69297103hg18UCSC Ensembl
Innerchr5:69276916..69296381hg17UCSC Ensembl
Outerchr5:69276696..69297103hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3820408
hg1920408
hg1820408
hg1720408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10839
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)nssv13684
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