A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv478205



Internal ID15230945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2641413..2641413hg38UCSC Ensembl
chr3:2683097..2683097hg19UCSC Ensembl
chr3:2658097..2658097hg18UCSC Ensembl
chr3:2658097..2658097hg17UCSC Ensembl
Cytoband3p26.3
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 Variantsnssv3020429
SamplesNA18507
Known GenesCNTN4
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)nsv478205
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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