A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv477778



Internal ID15230518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12487916..12487916hg38UCSC Ensembl
chr11:12509463..12509463hg19UCSC Ensembl
chr11:12466039..12466039hg18UCSC Ensembl
chr11:12466039..12466039hg17UCSC Ensembl
Cytoband11p15.3
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 Variantsnssv3018863
SamplesNA18517
Known GenesPARVA
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)nsv477778
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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