A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19071



Internal ID15491303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4789510..4791769hg38UCSC Ensembl
Outerchr8:4788957..4792635hg38UCSC Ensembl
Innerchr8:4647032..4649291hg19UCSC Ensembl
Outerchr8:4646479..4650157hg19UCSC Ensembl
Innerchr8:4634440..4636699hg18UCSC Ensembl
Outerchr8:4633887..4637565hg18UCSC Ensembl
Innerchr8:4634440..4636699hg17UCSC Ensembl
Outerchr8:4633887..4637565hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg383679
hg193679
hg183679
hg173679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA18860
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)nssv19071
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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