A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12242



Internal ID15827531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:153760421..153760808hg38UCSC Ensembl
Outerchr4:153759651..153761436hg38UCSC Ensembl
Innerchr4:154681573..154681960hg19UCSC Ensembl
Outerchr4:154680803..154682588hg19UCSC Ensembl
Innerchr4:154901023..154901410hg18UCSC Ensembl
Outerchr4:154900253..154902038hg18UCSC Ensembl
Innerchr4:155039178..155039565hg17UCSC Ensembl
Outerchr4:155038408..155040193hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381786
hg191786
hg181786
hg171786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10589
Supporting Variants
SamplesNA07029
Known GenesRNF175
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)nssv12242
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