A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283



Internal ID15201191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:9223493..9242818hg38UCSC Ensembl
Outerchr20:9204140..9223465hg19UCSC Ensembl
Outerchr20:9152140..9171465hg18UCSC Ensembl
Outerchr20:9152140..9171465hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3819326
hg1919326
hg1819326
hg1719326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7651
SamplesNA12156
Known GenesPLCB4
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)nsv3283
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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