A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv474090



Internal ID15226840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50140361..50140361hg38UCSC Ensembl
chr20:48756898..48756898hg19UCSC Ensembl
chr20:48190305..48190305hg18UCSC Ensembl
chr20:48190305..48190305hg17UCSC Ensembl
Cytoband20q13.13
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 Variantsnssv3017267
SamplesNA12156
Known GenesTMEM189, TMEM189-UBE2V1
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)nsv474090
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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