A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20278



Internal ID15842388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46163941..46332265hg38UCSC Ensembl
Outerchr10:46163830..46332665hg38UCSC Ensembl
Innerchr10:47535177..47703501hg19UCSC Ensembl
Outerchr10:47535066..47703901hg19UCSC Ensembl
Innerchr10:47005183..47173507hg18UCSC Ensembl
Outerchr10:47005072..47173907hg18UCSC Ensembl
Innerchr10:47005183..47173507hg17UCSC Ensembl
Outerchr10:47005072..47173907hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38168836
hg19168836
hg18168836
hg17168836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19144
Known GenesANTXRL, ANTXRLP1
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)nssv20278
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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