A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25611



Internal ID15484274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27750777..27755716hg38UCSC Ensembl
Outerchr17:27750070..27756126hg38UCSC Ensembl
Innerchr17:26077803..26082742hg19UCSC Ensembl
Outerchr17:26077096..26083152hg19UCSC Ensembl
Innerchr17:23101930..23106869hg18UCSC Ensembl
Outerchr17:23101223..23107279hg18UCSC Ensembl
Innerchr17:23101930..23106869hg17UCSC Ensembl
Outerchr17:23101223..23107279hg17UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg386057
hg196057
hg186057
hg176057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9533
Supporting Variants
SamplesNA12155
Known Genes
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)nssv25611
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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