A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv476046



Internal ID15228798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2262888..2262888hg38UCSC Ensembl
chr12:2372054..2372054hg19UCSC Ensembl
chr12:2242315..2242315hg18UCSC Ensembl
chr12:2242315..2242315hg17UCSC Ensembl
Cytoband12p13.33
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 Variantsnssv3012876
SamplesNA12878
Known GenesCACNA1C
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)nsv476046
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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