A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8469



Internal ID8813363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155214154..155234781hg38UCSC Ensembl
Outerchr1:155183945..155204572hg19UCSC Ensembl
Outerchr1:153450569..153471196hg18UCSC Ensembl
Outerchr1:151997018..152017645hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3820628
hg1920628
hg1820628
hg1720628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26194
SamplesNA19173
Known GenesGBA, GBAP1
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)nsv8469
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