A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv368n54



Internal ID18992544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93822968..93824915hg38UCSC Ensembl
chr1:94288524..94290471hg19UCSC Ensembl
chr1:94061112..94063059hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381948
hg191948
hg181948
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546833, nsv546823, nsv546824, nsv546825
Samples
Known GenesBCAR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv368n54
Frequency
Sample Size17421
Observed Gain20
Observed Loss13
Observed Complex0
Frequencyn/a


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