A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3259



Internal ID15547850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2175652..2206755hg38UCSC Ensembl
Outerchr20:2156298..2187401hg19UCSC Ensembl
Outerchr20:2104298..2135401hg18UCSC Ensembl
Outerchr20:2104298..2135401hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg388393
hg198393
hg188393
hg178393
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10280
SamplesNA18956
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)nsv3259
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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