A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10130



Internal ID15498407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:113413851..113496882hg38UCSC Ensembl
Outerchr2:114171428..114254459hg19UCSC Ensembl
Outerchr2:113887898..113970929hg18UCSC Ensembl
Outerchr2:113887658..113970689hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3883032
hg1983032
hg1883032
hg1783032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11513, nssv28586
SamplesNA18563, NA18972
Known GenesCBWD2
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)nsv10130
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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