A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16344



Internal ID15493687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12357879..12357893hg38UCSC Ensembl
Outerchr8:12357597..12358824hg38UCSC Ensembl
Innerchr8:12215388..12215402hg19UCSC Ensembl
Outerchr8:12215106..12216333hg19UCSC Ensembl
Innerchr8:12259759..12259773hg18UCSC Ensembl
Outerchr8:12259477..12260704hg18UCSC Ensembl
Innerchr8:12259759..12259773hg17UCSC Ensembl
Outerchr8:12259477..12260704hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381228
hg191228
hg181228
hg171228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18975
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)nssv16344
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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