A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546434



Internal ID15987157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:63449672..63576116hg38UCSC Ensembl
Innerchr1:63915343..64041787hg19UCSC Ensembl
Innerchr1:63687931..63814375hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38126445
hg19126445
hg18126445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716137
Samples
Known GenesDLEU2L, EFCAB7, ITGB3BP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546434
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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