A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591465



Internal ID16032188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125283331..126140524hg38UCSC Ensembl
Innerchr3:125002175..125859367hg19UCSC Ensembl
Innerchr3:126484865..127342057hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38857194
hg19857193
hg18857193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv972259
Samples
Known GenesALDH1L1, ALDH1L1-AS1, ALG1L, FAM86JP, MIR548I1, OSBPL11, ROPN1B, SLC41A3, SNX4, ZNF148
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591465
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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