A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10311



Internal ID15498588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:125073408..125703762hg38UCSC Ensembl
Outerchr3:124792252..125422606hg19UCSC Ensembl
Outerchr3:126274942..126905296hg18UCSC Ensembl
Outerchr3:126274942..126905304hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38630355
hg19630355
hg18630355
hg17630363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11523
SamplesNA07048
Known GenesMIR5092, OSBPL11, SLC12A8, SNX4, ZNF148
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)nsv10311
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