A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9570



Internal ID15500796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47693507..47702425hg38UCSC Ensembl
Outerchr17:45770873..45779791hg19UCSC Ensembl
Outerchr17:43125872..43134790hg18UCSC Ensembl
Outerchr17:43125872..43134790hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg388919
hg198919
hg188919
hg178919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27170
SamplesNA18502
Known GenesTBKBP1
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)nsv9570
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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