A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv476511



Internal ID15229263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161650901..161650901hg38UCSC Ensembl
chr2:162507411..162507411hg19UCSC Ensembl
chr2:162215657..162215657hg18UCSC Ensembl
chr2:162332918..162332918hg17UCSC Ensembl
Cytoband2q24.2
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 Variantsnssv3020539
SamplesNA12878
Known GenesSLC4A10
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)nsv476511
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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