A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3419



Internal ID15201340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:54021042..54055576hg38UCSC Ensembl
Outerchr20:52637581..52672115hg19UCSC Ensembl
Outerchr20:52070988..52105522hg18UCSC Ensembl
Outerchr20:52070988..52105522hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3834535
hg1934535
hg1834535
hg1734535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4543
SamplesNA12878
Known GenesBCAS1
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)nsv3419
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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