A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3015940



Internal ID15224133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113912428..113912428hg38UCSC Ensembl
chr2:114670005..114670005hg19UCSC Ensembl
chr2:114386475..114386475hg18UCSC Ensembl
chr2:114386235..114386235hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv479438
Supporting Variants
Samples
Known GenesACTR3
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)nssv3015940
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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