A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19947



Internal ID15495362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129730094..129742466hg38UCSC Ensembl
Outerchr8:129725572..129744408hg38UCSC Ensembl
Innerchr8:130742340..130754712hg19UCSC Ensembl
Outerchr8:130737818..130756654hg19UCSC Ensembl
Innerchr8:130811522..130823894hg18UCSC Ensembl
Outerchr8:130807000..130825836hg18UCSC Ensembl
Innerchr8:130811522..130823894hg17UCSC Ensembl
Outerchr8:130807000..130825836hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3818837
hg1918837
hg1818837
hg1718837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8387
Supporting Variants
SamplesNA19132
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)nssv19947
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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