A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2334



Internal ID15540807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47830961..47838711hg38UCSC Ensembl
Outerchr20:46459705..46467455hg19UCSC Ensembl
Outerchr20:45893112..45900862hg18UCSC Ensembl
Outerchr20:45893112..45900862hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg389195
hg199195
hg189195
hg179195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3399
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2334
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