A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16786



Internal ID15488525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3877626..3883739hg38UCSC Ensembl
Outerchr8:3877038..3884229hg38UCSC Ensembl
Innerchr8:3735148..3741261hg19UCSC Ensembl
Outerchr8:3734560..3741751hg19UCSC Ensembl
Innerchr8:3722556..3728669hg18UCSC Ensembl
Outerchr8:3721968..3729159hg18UCSC Ensembl
Innerchr8:3722556..3728669hg17UCSC Ensembl
Outerchr8:3721968..3729159hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg387192
hg197192
hg187192
hg177192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA18552
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)nssv16786
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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