A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv513n54



Internal ID22768408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112143727..112161318hg38UCSC Ensembl
chr1:112686349..112703940hg19UCSC Ensembl
chr1:112487872..112505463hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3817592
hg1917592
hg1817592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547560, nsv547557
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv513n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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