A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582696



Internal ID16023419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110610150..110711561hg38UCSC Ensembl
Innerchr2:111367727..111469138hg19UCSC Ensembl
Innerchr2:111084196..111185609hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38101412
hg19101412
hg18101414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916080
Samples
Known GenesBUB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582696
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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