A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17701



Internal ID15497670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4132035..4133573hg38UCSC Ensembl
Outerchr8:4131067..4135042hg38UCSC Ensembl
Innerchr8:3989557..3991095hg19UCSC Ensembl
Outerchr8:3988589..3992564hg19UCSC Ensembl
Innerchr8:3976965..3978503hg18UCSC Ensembl
Outerchr8:3975997..3979972hg18UCSC Ensembl
Innerchr8:3976965..3978503hg17UCSC Ensembl
Outerchr8:3975997..3979972hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg383976
hg193976
hg183976
hg173976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA19240
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)nssv17701
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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