A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18706



Internal ID15835332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47463771..47483555hg38UCSC Ensembl
Outerchr10:47463219..47483796hg38UCSC Ensembl
Innerchr10:48255807..48275591hg19UCSC Ensembl
Outerchr10:48255566..48276143hg19UCSC Ensembl
Innerchr10:47875813..47895597hg18UCSC Ensembl
Outerchr10:47875572..47896149hg18UCSC Ensembl
Innerchr10:47875813..47895597hg17UCSC Ensembl
Outerchr10:47875572..47896149hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3820578
hg1920578
hg1820578
hg1720578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18552
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)nssv18706
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