A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591493



Internal ID16032216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126091128..126228001hg38UCSC Ensembl
Innerchr3:125809971..125946844hg19UCSC Ensembl
Innerchr3:127292661..127429534hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38136874
hg19136874
hg18136874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8545n54
Supporting Variantsnssv972393
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)nsv591493
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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