A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19823



Internal ID15492777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12577563..12602744hg38UCSC Ensembl
Outerchr8:12576264..12603868hg38UCSC Ensembl
Innerchr8:12435072..12460253hg19UCSC Ensembl
Outerchr8:12433773..12461377hg19UCSC Ensembl
Innerchr8:12479443..12504624hg18UCSC Ensembl
Outerchr8:12478144..12505748hg18UCSC Ensembl
Innerchr8:12479443..12504624hg17UCSC Ensembl
Outerchr8:12478144..12505748hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3827605
hg1927605
hg1827605
hg1727605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18972
Known GenesLOC729732
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)nssv19823
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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