A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10413



Internal ID15498690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:673415..690512hg38UCSC Ensembl
Outerchr4:667204..684301hg19UCSC Ensembl
Outerchr4:657204..674301hg18UCSC Ensembl
Outerchr4:657204..674301hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3817098
hg1917098
hg1817098
hg1717098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12642
SamplesNA18502
Known GenesATP5I, MFSD7, MYL5
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)nsv10413
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