A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16577



Internal ID15489099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7966592..8035223hg38UCSC Ensembl
Outerchr8:7962232..8035497hg38UCSC Ensembl
Innerchr8:7824114..7892745hg19UCSC Ensembl
Outerchr8:7819754..7893019hg19UCSC Ensembl
Innerchr8:7861524..7930155hg18UCSC Ensembl
Outerchr8:7857164..7930429hg18UCSC Ensembl
Innerchr8:7861524..7930155hg17UCSC Ensembl
Outerchr8:7857164..7930429hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3873266
hg1973266
hg1873266
hg1773266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18563
Known GenesDEFB109P1B, FAM66E, USP17L3, USP17L8
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)nssv16577
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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