A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248



Internal ID15495881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:5738205..5750273hg38UCSC Ensembl
Outerchr8:5737685..5751222hg38UCSC Ensembl
Innerchr8:5595727..5607795hg19UCSC Ensembl
Outerchr8:5595207..5608744hg19UCSC Ensembl
Innerchr8:5583135..5595203hg18UCSC Ensembl
Outerchr8:5582615..5596152hg18UCSC Ensembl
Innerchr8:5583135..5595203hg17UCSC Ensembl
Outerchr8:5582615..5596152hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg3813538
hg1913538
hg1813538
hg1713538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA19144
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)nssv17248
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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