A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv479307



Internal ID15578733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148888791..148888791hg38UCSC Ensembl
chr2:149646360..149646360hg19UCSC Ensembl
chr2:149362830..149362830hg18UCSC Ensembl
chr2:149480092..149480092hg17UCSC Ensembl
Cytoband2q23.1
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 Variantsnssv3018413
Samples
Known GenesKIF5C
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)nsv479307
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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