A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20551



Internal ID15844676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46769467..46772071hg38UCSC Ensembl
Outerchr10:46769454..46772551hg38UCSC Ensembl
Innerchr10:46777556..46780151hg19UCSC Ensembl
Outerchr10:46777076..46780164hg19UCSC Ensembl
Innerchr10:46197562..46200157hg18UCSC Ensembl
Outerchr10:46197082..46200170hg18UCSC Ensembl
Innerchr10:46197562..46200157hg17UCSC Ensembl
Outerchr10:46197082..46200170hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383098
hg193089
hg183089
hg173089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19240
Known Genes
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)nssv20551
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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