A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13243



Internal ID15833742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40593409..40595088hg38UCSC Ensembl
Outerchr4:40592905..40595549hg38UCSC Ensembl
Innerchr4:40595426..40597105hg19UCSC Ensembl
Outerchr4:40594922..40597566hg19UCSC Ensembl
Innerchr4:40290183..40291862hg18UCSC Ensembl
Outerchr4:40289679..40292323hg18UCSC Ensembl
Innerchr4:40436354..40438033hg17UCSC Ensembl
Outerchr4:40435850..40438494hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382645
hg192645
hg182645
hg172645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10484
Supporting Variants
SamplesNA18504
Known GenesRBM47
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)nssv13243
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer