A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3311



Internal ID15201222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:17594661..17627255hg38UCSC Ensembl
Outerchr20:17575306..17607900hg19UCSC Ensembl
Outerchr20:17523306..17555900hg18UCSC Ensembl
Outerchr20:17523306..17555900hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg387149
hg197149
hg187149
hg177149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4526
SamplesNA12878
Known GenesDSTN, RRBP1
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)nsv3311
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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