A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15670



Internal ID15485059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4138252..4139351hg38UCSC Ensembl
Outerchr8:4137561..4139859hg38UCSC Ensembl
Innerchr8:3995774..3996873hg19UCSC Ensembl
Outerchr8:3995083..3997381hg19UCSC Ensembl
Innerchr8:3983182..3984281hg18UCSC Ensembl
Outerchr8:3982491..3984789hg18UCSC Ensembl
Innerchr8:3983182..3984281hg17UCSC Ensembl
Outerchr8:3982491..3984789hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
hg172299
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)nssv15670
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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