A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584059



Internal ID16024782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188976326..189003655hg38UCSC Ensembl
Innerchr2:189841052..189868381hg19UCSC Ensembl
Innerchr2:189549297..189576626hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3827330
hg1927330
hg1827330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7234n54
Supporting Variantsnssv928426
Samples
Known GenesCOL3A1, MIR1245A, MIR1245B, MIR3606
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584059
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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