A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv479553



Internal ID15232293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46012749..46012749hg38UCSC Ensembl
chr22:46408629..46408629hg19UCSC Ensembl
chr22:44787293..44787293hg18UCSC Ensembl
chr22:44729148..44729148hg17UCSC Ensembl
Cytoband22q13.31
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 Variantsnssv3018990
Samples
Known Genes
MethodSequencing
Analysis
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA contig. The coordinate provided is from the mappable end of a contig assembled from multiple read pairs, and indicates the genomic vicinity of a novel sequence insertion.
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nsv479553
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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