A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18934



Internal ID15828335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47473407..47473483hg38UCSC Ensembl
Outerchr10:47473153..47473776hg38UCSC Ensembl
Innerchr10:48265879..48265955hg19UCSC Ensembl
Outerchr10:48265586..48266209hg19UCSC Ensembl
Innerchr10:47885885..47885961hg18UCSC Ensembl
Outerchr10:47885592..47886215hg18UCSC Ensembl
Innerchr10:47885885..47885961hg17UCSC Ensembl
Outerchr10:47885592..47886215hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38624
hg19624
hg18624
hg17624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA10839
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)nssv18934
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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