A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17212



Internal ID15839016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45692454..45700383hg38UCSC Ensembl
Outerchr10:45692123..45701936hg38UCSC Ensembl
Innerchr10:46187902..46195831hg19UCSC Ensembl
Outerchr10:46187571..46197384hg19UCSC Ensembl
Innerchr10:45507908..45515837hg18UCSC Ensembl
Outerchr10:45507577..45517390hg18UCSC Ensembl
Innerchr10:45507908..45515837hg17UCSC Ensembl
Outerchr10:45507577..45517390hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg389814
hg199814
hg189814
hg179814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8628
Supporting Variants
SamplesNA18942
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)nssv17212
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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