A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16504



Internal ID15481765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4970526..4975740hg38UCSC Ensembl
Outerchr8:4969742..4976654hg38UCSC Ensembl
Innerchr8:4828048..4833262hg19UCSC Ensembl
Outerchr8:4827264..4834176hg19UCSC Ensembl
Innerchr8:4815456..4820670hg18UCSC Ensembl
Outerchr8:4814672..4821584hg18UCSC Ensembl
Innerchr8:4815456..4820670hg17UCSC Ensembl
Outerchr8:4814672..4821584hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg386913
hg196913
hg186913
hg176913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA10839
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)nssv16504
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer