A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv516n54



Internal ID22768411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114042968..114082803hg38UCSC Ensembl
chr1:114585590..114625425hg19UCSC Ensembl
chr1:114387113..114426948hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3839836
hg1939836
hg1839836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547569, nsv547568
Samples1780862015_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv516n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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