A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13064



Internal ID15834406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:42703361..42703691hg38UCSC Ensembl
Outerchr4:42695645..42704131hg38UCSC Ensembl
Innerchr4:42705378..42705708hg19UCSC Ensembl
Outerchr4:42697662..42706148hg19UCSC Ensembl
Innerchr4:42400135..42400465hg18UCSC Ensembl
Outerchr4:42392419..42400905hg18UCSC Ensembl
Innerchr4:42546306..42546636hg17UCSC Ensembl
Outerchr4:42538590..42547076hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg388487
hg198487
hg188487
hg178487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10487
Supporting Variants
SamplesNA18517
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)nssv13064
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