A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582697



Internal ID16023420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110628656..110694239hg38UCSC Ensembl
Innerchr2:111386233..111451816hg19UCSC Ensembl
Innerchr2:111102702..111168287hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3865584
hg1965584
hg1865586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7007n54
Supporting Variantsnssv916081
Samples
Known GenesBUB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582697
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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