A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19643



Internal ID15492771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12155775..12169745hg38UCSC Ensembl
Outerchr8:12154884..12170071hg38UCSC Ensembl
Innerchr8:12013284..12027254hg19UCSC Ensembl
Outerchr8:12012393..12027580hg19UCSC Ensembl
Innerchr8:12050693..12064663hg18UCSC Ensembl
Outerchr8:12049802..12064989hg18UCSC Ensembl
Innerchr8:12050693..12064663hg17UCSC Ensembl
Outerchr8:12049802..12064989hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3815188
hg1915188
hg1815188
hg1715188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18972
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)nssv19643
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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