A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3016826



Internal ID15223706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122024535..122024535hg38UCSC Ensembl
chr12:122462441..122462441hg19UCSC Ensembl
chr12:120946824..120946824hg18UCSC Ensembl
chr12:120925161..120925161hg17UCSC 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 StatusS
Merged Variantsnsv479804
Supporting Variants
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)nssv3016826
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer