A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3020073



Internal ID15219332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:95090630..95090630hg38UCSC Ensembl
chr14:95556967..95556967hg19UCSC Ensembl
chr14:94626720..94626720hg18UCSC Ensembl
chr14:94626720..94626720hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471967
Supporting Variants
SamplesNA18555
Known GenesDICER1
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nssv3020073
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