A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17639



Internal ID15496437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7774912..7932626hg38UCSC Ensembl
Outerchr8:7774564..7933798hg38UCSC Ensembl
Innerchr8:7632434..7790148hg19UCSC Ensembl
Outerchr8:7632086..7791320hg19UCSC Ensembl
Innerchr8:7669844..7827558hg18UCSC Ensembl
Outerchr8:7669496..7828730hg18UCSC Ensembl
Innerchr8:7669844..7827558hg17UCSC Ensembl
Outerchr8:7669496..7828730hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38159235
hg19159235
hg18159235
hg17159235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19173
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nssv17639
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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