A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3418



Internal ID15548025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:53698623..53723886hg38UCSC Ensembl
Outerchr20:52315162..52340425hg19UCSC Ensembl
Outerchr20:51748569..51773832hg18UCSC Ensembl
Outerchr20:51748569..51773832hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg387358
hg197358
hg187358
hg177358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1610
SamplesNA19240
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)nsv3418
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