A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv520n54



Internal ID22768415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117336444..117339008hg38UCSC Ensembl
chr1:117879066..117881630hg19UCSC Ensembl
chr1:117680589..117683153hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg382565
hg192565
hg182565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547590, nsv547588, nsv547589
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv520n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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