A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3020337



Internal ID15221969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168905162..168905162hg38UCSC Ensembl
chr2:169761672..169761672hg19UCSC Ensembl
chr2:169469918..169469918hg18UCSC Ensembl
chr2:169587179..169587179hg17UCSC Ensembl
Cytoband2q24.3
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 Variantsnsv479788
Supporting Variants
Samples
Known GenesG6PC2
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)nssv3020337
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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