A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv462n54



Internal ID22768357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:105483286..105629866hg38UCSC Ensembl
chr1:106025908..106172488hg19UCSC Ensembl
chr1:105827431..105974011hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38146581
hg19146581
hg18146581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547305, nsv547304
Samples1780862202_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv462n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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