A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18536



Internal ID15841450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47469839..47473483hg38UCSC Ensembl
Outerchr10:47469237..47473776hg38UCSC Ensembl
Innerchr10:48265879..48269523hg19UCSC Ensembl
Outerchr10:48265586..48270125hg19UCSC Ensembl
Innerchr10:47885885..47889529hg18UCSC Ensembl
Outerchr10:47885592..47890131hg18UCSC Ensembl
Innerchr10:47885885..47889529hg17UCSC Ensembl
Outerchr10:47885592..47890131hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg384540
hg194540
hg184540
hg174540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19007
Known GenesANXA8
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)nssv18536
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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