A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv478969



Internal ID15231709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106864323..106864323hg38UCSC Ensembl
chr11:106735049..106735049hg19UCSC Ensembl
chr11:106240259..106240259hg18UCSC Ensembl
chr11:106240259..106240259hg17UCSC Ensembl
Cytoband11q22.3
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 Variantsnssv3012403
SamplesNA18507
Known GenesGUCY1A2
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)nsv478969
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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