A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27100



Internal ID15832894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41376384..41388727hg38UCSC Ensembl
Outerchr17:41375424..41389202hg38UCSC Ensembl
Innerchr17:39532636..39544979hg19UCSC Ensembl
Outerchr17:39531676..39545454hg19UCSC Ensembl
Innerchr17:36786162..36798505hg18UCSC Ensembl
Outerchr17:36785202..36798980hg18UCSC Ensembl
Innerchr17:36786162..36798505hg17UCSC Ensembl
Outerchr17:36785202..36798980hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3813779
hg1913779
hg1813779
hg1713779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9554
Supporting Variants
SamplesNA18502
Known GenesKRT34
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)nssv27100
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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