A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10309



Internal ID15845272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:116551557..116553428hg38UCSC Ensembl
Outerchr3:116270404..116272275hg19UCSC Ensembl
Outerchr3:117753094..117754965hg18UCSC Ensembl
Outerchr3:117753094..117754965hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg381872
hg191872
hg181872
hg171872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12072, nssv12224
SamplesNA18502, NA18517
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)nsv10309
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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