A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583214



Internal ID16370623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141542354..141700747hg38UCSC Ensembl
Innerchr2:142299923..142458316hg19UCSC Ensembl
Innerchr2:142016393..142174786hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38158394
hg19158394
hg18158394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920129
Samples
Known GenesLRP1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583214
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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