A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3058



Internal ID15540917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:5676601..5702663hg38UCSC Ensembl
Outerchr20:5657247..5683309hg19UCSC Ensembl
Outerchr20:5605247..5631309hg18UCSC Ensembl
Outerchr20:5605247..5631309hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg386154
hg196154
hg186154
hg176154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3269
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)nssv3058
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