A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv480768



Internal ID15233508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122137228..122137228hg38UCSC Ensembl
chr12:122621775..122621775hg19UCSC Ensembl
chr12:121187728..121187728hg18UCSC Ensembl
chr12:121146655..121146655hg17UCSC 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 Variantsnssv3017990
Samples
Known GenesMLXIP
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)nsv480768
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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