A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590163



Internal ID16377572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:45507536..45509810hg38UCSC Ensembl
Innerchr3:45549028..45551302hg19UCSC Ensembl
Innerchr3:45524032..45526306hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382275
hg192275
hg182275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8301n54
Supporting Variantsnssv962453, nssv962454
Samples
Known GenesLARS2, LARS2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590163
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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