A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16637



Internal ID15489534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13325388..13670010hg38UCSC Ensembl
Outerchr8:13234049..13671582hg38UCSC Ensembl
Innerchr8:13182897..13527519hg19UCSC Ensembl
Outerchr8:13091558..13529091hg19UCSC Ensembl
Innerchr8:13227268..13571890hg18UCSC Ensembl
Outerchr8:13135929..13573462hg18UCSC Ensembl
Innerchr8:13227268..13571890hg17UCSC Ensembl
Outerchr8:13135929..13573462hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38437534
hg19437534
hg18437534
hg17437534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8290
Supporting Variants
SamplesNA18563
Known GenesC8orf48, DLC1
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)nssv16637
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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