A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv17n54



Internal ID20133441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1014228..1029058hg38UCSC Ensembl
chr1:949608..964438hg19UCSC Ensembl
chr1:939471..954301hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3814831
hg1914831
hg1814831
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv544935, nsv544936
Samples
Known GenesAGRN, ISG15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv17n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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