A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv474326



Internal ID15227076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:5195908..5195908hg38UCSC Ensembl
chr3:5237593..5237593hg19UCSC Ensembl
chr3:5212593..5212593hg18UCSC Ensembl
chr3:5212593..5212593hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3014173
SamplesNA18507
Known GenesEDEM1
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nsv474326
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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