A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv479754



Internal ID15232494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122034632..122034632hg38UCSC Ensembl
chr12:122472538..122472538hg19UCSC Ensembl
chr12:120956921..120956921hg18UCSC Ensembl
chr12:120935258..120935258hg17UCSC Ensembl
Cytoband12q24.31
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 Variantsnssv3018441
Samples
Known GenesBCL7A
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)nsv479754
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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