A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13726



Internal ID15488747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71128007..71132735hg38UCSC Ensembl
Outerchr5:71127806..71133050hg38UCSC Ensembl
Innerchr5:70423834..70428562hg19UCSC Ensembl
Outerchr5:70423633..70428877hg19UCSC Ensembl
Innerchr5:70459590..70464318hg18UCSC Ensembl
Outerchr5:70459389..70464633hg18UCSC Ensembl
Innerchr5:70459590..70464318hg17UCSC Ensembl
Outerchr5:70459389..70464633hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg385245
hg195245
hg185245
hg175245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
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)nssv13726
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