A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19853



Internal ID15492778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12603868..12603869hg38UCSC Ensembl
Outerchr8:12602744..12603894hg38UCSC Ensembl
Innerchr8:12461377..12461378hg19UCSC Ensembl
Outerchr8:12460253..12461403hg19UCSC Ensembl
Innerchr8:12505748..12505749hg18UCSC Ensembl
Outerchr8:12504624..12505774hg18UCSC Ensembl
Innerchr8:12505748..12505749hg17UCSC Ensembl
Outerchr8:12504624..12505774hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381151
hg191151
hg181151
hg171151
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)nssv19853
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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