A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3012229



Internal ID15568986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46455404..46455404hg38UCSC Ensembl
chrX:46314839..46314839hg19UCSC Ensembl
chrX:46199783..46199783hg18UCSC Ensembl
chrX:46071093..46071093hg17UCSC Ensembl
CytobandXp11.3
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 Variantsnsv480496
Supporting Variants
Samples
Known GenesKRBOX4
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)nssv3012229
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