A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6943



Internal ID15536920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:44658592..44689340hg38UCSC Ensembl
Outerchr20:43287233..43317981hg19UCSC Ensembl
Outerchr20:42720647..42751395hg18UCSC Ensembl
Outerchr20:42720647..42751395hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg388687
hg198687
hg188687
hg178687
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3391
Supporting Variants
SamplesNA12156
Known GenesLOC79015
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)nssv6943
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