A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9531



Internal ID15847443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27082185..27091665hg38UCSC Ensembl
Outerchr17:25409211..25418691hg19UCSC Ensembl
Outerchr17:22433338..22442818hg18UCSC Ensembl
Outerchr17:22433338..22442818hg17UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg389481
hg199481
hg189481
hg179481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28221
SamplesNA19221
Known Genes
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)nsv9531
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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