A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15730



Internal ID15485062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4974737..4975740hg38UCSC Ensembl
Outerchr8:4973851..4976654hg38UCSC Ensembl
Innerchr8:4832259..4833262hg19UCSC Ensembl
Outerchr8:4831373..4834176hg19UCSC Ensembl
Innerchr8:4819667..4820670hg18UCSC Ensembl
Outerchr8:4818781..4821584hg18UCSC Ensembl
Innerchr8:4819667..4820670hg17UCSC Ensembl
Outerchr8:4818781..4821584hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382804
hg192804
hg182804
hg172804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA12802
Known GenesCSMD1
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)nssv15730
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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