A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv481135



Internal ID15580561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54164714..54164714hg38UCSC Ensembl
chr12:54558498..54558498hg19UCSC Ensembl
chr12:52844765..52844765hg18UCSC Ensembl
chr12:52844765..52844765hg17UCSC Ensembl
Cytoband12q13.13
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 Variantsnssv3014861
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)nsv481135
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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