A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3013036



Internal ID15217793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86795141..86795141hg38UCSC Ensembl
chr2:87022264..87022264hg19UCSC Ensembl
chr2:86875775..86875775hg18UCSC Ensembl
chr2:86933922..86933922hg17UCSC Ensembl
Cytoband2p11.2
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 Variantsnsv477145
Supporting Variants
SamplesNA18517
Known GenesCD8A
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)nssv3013036
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