A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17314



Internal ID15481792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:92624888..92625348hg38UCSC Ensembl
Outerchr8:92624381..92625979hg38UCSC Ensembl
Innerchr8:93637116..93637576hg19UCSC Ensembl
Outerchr8:93636609..93638207hg19UCSC Ensembl
Innerchr8:93706292..93706752hg18UCSC Ensembl
Outerchr8:93705785..93707383hg18UCSC Ensembl
Innerchr8:93706292..93706752hg17UCSC Ensembl
Outerchr8:93705785..93707383hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
hg171599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8367
Supporting Variants
SamplesNA10839
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)nssv17314
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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