A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12224



Internal ID15834158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:116551989..116552559hg38UCSC Ensembl
Outerchr3:116551557..116552945hg38UCSC Ensembl
Innerchr3:116270836..116271406hg19UCSC Ensembl
Outerchr3:116270404..116271792hg19UCSC Ensembl
Innerchr3:117753526..117754096hg18UCSC Ensembl
Outerchr3:117753094..117754482hg18UCSC Ensembl
Innerchr3:117753526..117754096hg17UCSC Ensembl
Outerchr3:117753094..117754482hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg381389
hg191389
hg181389
hg171389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10309
Supporting Variants
SamplesNA18517
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)nssv12224
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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