A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv480078



Internal ID15579504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57339123..57339123hg38UCSC Ensembl
chr3:57373151..57373151hg19UCSC Ensembl
chr3:57348191..57348191hg18UCSC Ensembl
chr3:57348191..57348191hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3011905
Samples
Known GenesDNAH12
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)nsv480078
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