A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15805



Internal ID15494271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76526886..76540544hg38UCSC Ensembl
Outerchr7:76525511..76541397hg38UCSC Ensembl
Innerchr7:76156203..76169861hg19UCSC Ensembl
Outerchr7:76154828..76170714hg19UCSC Ensembl
Innerchr7:75994139..76007797hg18UCSC Ensembl
Outerchr7:75992764..76008650hg18UCSC Ensembl
Innerchr7:75800854..75814512hg17UCSC Ensembl
Outerchr7:75799479..75815365hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3815887
hg1915887
hg1815887
hg1715887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8160
Supporting Variants
SamplesNA18980
Known GenesUPK3B
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)nssv15805
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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