A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584160



Internal ID16024883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201039216..201298760hg38UCSC Ensembl
Innerchr2:201903939..202163483hg19UCSC Ensembl
Innerchr2:201612184..201871728hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38259545
hg19259545
hg18259545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930351
Samples
Known GenesALS2CR12, CASP10, CASP8, CFLAR, CFLAR-AS1, FAM126B, NDUFB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584160
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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