A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17208



Internal ID15490031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7712750..7953625hg38UCSC Ensembl
Outerchr8:7711892..7954150hg38UCSC Ensembl
Innerchr8:7570272..7811147hg19UCSC Ensembl
Outerchr8:7569414..7811672hg19UCSC Ensembl
Innerchr8:7607682..7848557hg18UCSC Ensembl
Outerchr8:7606824..7849082hg18UCSC Ensembl
Innerchr8:7607682..7848557hg17UCSC Ensembl
Outerchr8:7606824..7849082hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38242259
hg19242259
hg18242259
hg17242259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18564
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, 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)nssv17208
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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