A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24784



Internal ID15484603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46532267..46553357hg38UCSC Ensembl
Outerchr17:46531835..46553942hg38UCSC Ensembl
Innerchr17:44609633..44630723hg19UCSC Ensembl
Outerchr17:44609201..44631308hg19UCSC Ensembl
Innerchr17:41964949..41986039hg18UCSC Ensembl
Outerchr17:41964517..41986624hg18UCSC Ensembl
Innerchr17:41964949..41986039hg17UCSC Ensembl
Outerchr17:41964517..41986624hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3822108
hg1922108
hg1822108
hg1722108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA12740
Known GenesARL17A, LRRC37A2
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)nssv24784
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