A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15799



Internal ID15490537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7548568..7583761hg38UCSC Ensembl
Outerchr8:7547123..7584597hg38UCSC Ensembl
Innerchr8:7406090..7441283hg19UCSC Ensembl
Outerchr8:7404645..7442119hg19UCSC Ensembl
Innerchr8:7393500..7428693hg18UCSC Ensembl
Outerchr8:7392055..7429529hg18UCSC Ensembl
Innerchr8:7393500..7428693hg17UCSC Ensembl
Outerchr8:7392055..7429529hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3837475
hg1937475
hg1837475
hg1737475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18572
Known GenesFAM90A7P
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)nssv15799
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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