A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584056



Internal ID16024779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188931546..188976326hg38UCSC Ensembl
Innerchr2:189796272..189841052hg19UCSC Ensembl
Innerchr2:189504517..189549297hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3844781
hg1944781
hg1844781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7233n54
Supporting Variantsnssv928424
Samples
Known GenesCOL3A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584056
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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