A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583609



Internal ID16024332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170712123..170716799hg38UCSC Ensembl
Innerchr2:171568633..171573309hg19UCSC Ensembl
Innerchr2:171276879..171281555hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384677
hg194677
hg184677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7158n54
Supporting Variantsnssv925286
Samples
Known GenesLINC01124, SP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583609
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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