A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27200



Internal ID15486012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60082160..60126109hg38UCSC Ensembl
Outerchr17:60081156..60159528hg38UCSC Ensembl
Innerchr17:58159521..58203470hg19UCSC Ensembl
Outerchr17:58158517..58236889hg19UCSC Ensembl
Innerchr17:55514303..55558252hg18UCSC Ensembl
Outerchr17:55513299..55591671hg18UCSC Ensembl
Innerchr17:55514303..55558252hg17UCSC Ensembl
Outerchr17:55513299..55591671hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3878373
hg1978373
hg1878373
hg1778373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9579
Supporting Variants
SamplesNA18502
Known GenesCA4, LOC645638, LOC653653
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)nssv27200
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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