A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8353n54



Internal ID22776248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65189764..65233946hg38UCSC Ensembl
chr3:65175439..65219621hg19UCSC Ensembl
chr3:65150479..65194661hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3844183
hg1944183
hg1844183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590477, nsv590473, nsv590474, nsv590482, nsv590476, nsv590481, nsv590475, nsv590483, nsv590478, nsv590480, nsv590479, nsv590484
Samples1782681144_A, NINDS_70, 1780862388_A, 1780854096_A, 1780854340_A, NINDS_83, 1798860280_A, HGDP01310, 1780854197_A, 1780854063_A, 1780854362_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8353n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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