A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3407



Internal ID15201327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48792274..48825545hg38UCSC Ensembl
Outerchr20:47408811..47442082hg19UCSC Ensembl
Outerchr20:46842218..46875489hg18UCSC Ensembl
Outerchr20:46842218..46875489hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg386166
hg196166
hg186166
hg176166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7690
SamplesNA12156
Known GenesPREX1
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)nsv3407
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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