A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19183



Internal ID15487146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7852271..8033360hg38UCSC Ensembl
Outerchr8:7850239..8034222hg38UCSC Ensembl
Innerchr8:7709793..7890882hg19UCSC Ensembl
Outerchr8:7707761..7891744hg19UCSC Ensembl
Innerchr8:7747203..7928292hg18UCSC Ensembl
Outerchr8:7745171..7929154hg18UCSC Ensembl
Innerchr8:7747203..7928292hg17UCSC Ensembl
Outerchr8:7745171..7929154hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38183984
hg19183984
hg18183984
hg17183984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18504
Known GenesDEFB103A, DEFB103B, DEFB109P1B, DEFB4A, FAM66E, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
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)nssv19183
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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