A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581240



Internal ID16021963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25673202..25674072hg38UCSC Ensembl
Innerchr2:25896071..25896941hg19UCSC Ensembl
Innerchr2:25749575..25750445hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38871
hg19871
hg18871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6743n54
Supporting Variantsnssv904592
Samples
Known GenesDTNB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581240
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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