A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8480



Internal ID8813374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155236544..155244745hg38UCSC Ensembl
Outerchr1:155206335..155214536hg19UCSC Ensembl
Outerchr1:153472959..153481160hg18UCSC Ensembl
Outerchr1:152019408..152027609hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg388202
hg198202
hg188202
hg178202
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26400
SamplesNA19173
Known GenesGBA
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)nsv8480
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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