A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591494



Internal ID16032217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126091128..126251891hg38UCSC Ensembl
Innerchr3:125809971..125970734hg19UCSC Ensembl
Innerchr3:127292661..127453424hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38160764
hg19160764
hg18160764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8545n54
Supporting Variantsnssv972394
Samples
Known GenesALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, SLC41A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591494
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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