A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25629



Internal ID15497909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18417003..18418442hg38UCSC Ensembl
Outerchr17:18415728..18420642hg38UCSC Ensembl
Innerchr17:18320317..18321756hg19UCSC Ensembl
Outerchr17:18319042..18323956hg19UCSC Ensembl
Innerchr17:18261042..18262481hg18UCSC Ensembl
Outerchr17:18259767..18264681hg18UCSC Ensembl
Innerchr17:18261042..18262481hg17UCSC Ensembl
Outerchr17:18259767..18264681hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384915
hg194915
hg184915
hg174915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA19240
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)nssv25629
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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