A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18151



Internal ID15497739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7897389..7916730hg38UCSC Ensembl
Outerchr8:7896750..7917128hg38UCSC Ensembl
Innerchr8:7754911..7774252hg19UCSC Ensembl
Outerchr8:7754272..7774650hg19UCSC Ensembl
Innerchr8:7792321..7811662hg18UCSC Ensembl
Outerchr8:7791682..7812060hg18UCSC Ensembl
Innerchr8:7792321..7811662hg17UCSC Ensembl
Outerchr8:7791682..7812060hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3820379
hg1920379
hg1820379
hg1720379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19240
Known Genes
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)nssv18151
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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