A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582207



Internal ID16022930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72102473..72162205hg38UCSC Ensembl
Innerchr2:72329603..72389334hg19UCSC Ensembl
Innerchr2:72183111..72242842hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3859733
hg1959732
hg1859732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv912184, nssv912183
Samples
Known GenesCYP26B1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582207
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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