A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9606



Internal ID15847518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9743020..9755290hg38UCSC Ensembl
Outerchr18:9743017..9755287hg19UCSC Ensembl
Outerchr18:9733017..9745287hg18UCSC Ensembl
Outerchr18:9733017..9745287hg17UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3812271
hg1912271
hg1812271
hg1712271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27224
SamplesNA18972
Known GenesRAB31
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)nsv9606
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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