A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24253



Internal ID15831100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17279944..17281962hg38UCSC Ensembl
Outerchr17:17279263..17284356hg38UCSC Ensembl
Innerchr17:17183258..17185276hg19UCSC Ensembl
Outerchr17:17182577..17187670hg19UCSC Ensembl
Innerchr17:17123983..17126001hg18UCSC Ensembl
Outerchr17:17123302..17128395hg18UCSC Ensembl
Innerchr17:17123983..17126001hg17UCSC Ensembl
Outerchr17:17123302..17128395hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg385094
hg195094
hg185094
hg175094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9499
Supporting Variants
SamplesNA12740
Known GenesCOPS3
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)nssv24253
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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