A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2311



Internal ID15546874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:53471286..53492773hg38UCSC Ensembl
Outerchr18:50997656..51019143hg19UCSC Ensembl
Outerchr18:49251654..49273141hg18UCSC Ensembl
Outerchr18:49251654..49273141hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385045
hg195045
hg185045
hg175045
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4326
SamplesNA12878
Known GenesDCC
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2311
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