A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8595



Internal ID15499821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3066770..3070337hg38UCSC Ensembl
Outerchr10:3108962..3112529hg19UCSC Ensembl
Outerchr10:3098962..3102529hg18UCSC Ensembl
Outerchr10:3098962..3102529hg17UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg383568
hg193568
hg183568
hg173568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18468, nssv19029, nssv16541, nssv19508, nssv21351, nssv18963
SamplesNA12155, NA18860, NA07048, NA12872, NA18564, NA12740
Known GenesPFKP
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)nsv8595
Frequency
Sample Size31
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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