A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9499



Internal ID15847411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17278297..17284356hg38UCSC Ensembl
Outerchr17:17181611..17187670hg19UCSC Ensembl
Outerchr17:17122336..17128395hg18UCSC Ensembl
Outerchr17:17122336..17128395hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386060
hg196060
hg186060
hg176060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28173, nssv27133, nssv24253
SamplesNA18860, NA19221, NA12740
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)nsv9499
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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