A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582517



Internal ID16023240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98824454..98871509hg38UCSC Ensembl
Innerchr2:99440917..99487972hg19UCSC Ensembl
Innerchr2:98807349..98854404hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3847056
hg1947056
hg1847056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv914147
Samples
Known GenesKIAA1211L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582517
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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