A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv480457



Internal ID15233197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243807025..243807025hg38UCSC Ensembl
chr1:243970327..243970327hg19UCSC Ensembl
chr1:242036950..242036950hg18UCSC Ensembl
chr1:240296368..240296368hg17UCSC Ensembl
Cytoband1q44
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 Variantsnssv3018709
Samples
Known GenesAKT3
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)nsv480457
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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