A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18514



Internal ID15828772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47568360..47582835hg38UCSC Ensembl
Outerchr10:47567223..47582989hg38UCSC Ensembl
Innerchr10:47258351..47272847hg19UCSC Ensembl
Outerchr10:47257214..47273001hg19UCSC Ensembl
Innerchr10:46678357..46692853hg18UCSC Ensembl
Outerchr10:46677220..46693007hg18UCSC Ensembl
Innerchr10:46678357..46692853hg17UCSC Ensembl
Outerchr10:46677220..46693007hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3815767
hg1915788
hg1815788
hg1715788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA10839
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)nssv18514
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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