A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471836



Internal ID15224577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14458083..14458083hg38UCSC Ensembl
chr11:14479629..14479629hg19UCSC Ensembl
chr11:14436205..14436205hg18UCSC Ensembl
chr11:14436205..14436205hg17UCSC Ensembl
Cytoband11p15.2
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 Variantsnssv3013246
SamplesNA18555
Known GenesCOPB1
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)nsv471836
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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