A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv472896



Internal ID15225640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3127991..3127991hg38UCSC Ensembl
chr12:3237157..3237157hg19UCSC Ensembl
chr12:3107418..3107418hg18UCSC Ensembl
chr12:3107418..3107418hg17UCSC Ensembl
Cytoband12p13.32
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 Variantsnssv3015710
SamplesNA19129
Known GenesTSPAN9
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)nsv472896
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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