A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9554



Internal ID15847466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41375424..41389202hg38UCSC Ensembl
Outerchr17:39531676..39545454hg19UCSC Ensembl
Outerchr17:36785202..36798980hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv27441, nssv23401, nssv26109, nssv27100
SamplesNA18502, NA18860, NA10863, NA19240
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)nsv9554
Frequency
Sample Size31
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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