A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9494



Internal ID15847406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:13716441..13721344hg38UCSC Ensembl
Outerchr17:13619758..13624661hg19UCSC Ensembl
Outerchr17:13560483..13565386hg18UCSC Ensembl
Outerchr17:13560483..13565386hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg384904
hg194904
hg184904
hg174904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26597, nssv26677, nssv23495
SamplesNA18563, NA19132, NA18972
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)nsv9494
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer