A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16811



Internal ID15832143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46749508..46753055hg38UCSC Ensembl
Outerchr10:46749162..46753738hg38UCSC Ensembl
Innerchr10:46796551..46800108hg19UCSC Ensembl
Outerchr10:46795865..46800454hg19UCSC Ensembl
Innerchr10:46216557..46220114hg18UCSC Ensembl
Outerchr10:46215871..46220460hg18UCSC Ensembl
Innerchr10:46216557..46220114hg17UCSC Ensembl
Outerchr10:46215871..46220460hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg384577
hg194590
hg184590
hg174590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA12872
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)nssv16811
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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