A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv472851



Internal ID15225595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9372689..9372689hg38UCSC Ensembl
chr20:9353336..9353336hg19UCSC Ensembl
chr20:9301336..9301336hg18UCSC Ensembl
chr20:9301336..9301336hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3014169
SamplesNA18555
Known GenesPLCB4
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nsv472851
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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