A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20610



Internal ID15496917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7551205..7586230hg38UCSC Ensembl
Outerchr8:7550667..7587231hg38UCSC Ensembl
Innerchr8:7408727..7443752hg19UCSC Ensembl
Outerchr8:7408189..7444753hg19UCSC Ensembl
Innerchr8:7396137..7431162hg18UCSC Ensembl
Outerchr8:7395599..7432163hg18UCSC Ensembl
Innerchr8:7396137..7431162hg17UCSC Ensembl
Outerchr8:7395599..7432163hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3836565
hg1936565
hg1836565
hg1736565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19221
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)nssv20610
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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