A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8335n54



Internal ID22776230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53044876..53046335hg38UCSC Ensembl
chr3:53078892..53080351hg19UCSC Ensembl
chr3:53053932..53055391hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381460
hg191460
hg181460
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590354, nsv590352, nsv590343, nsv590355
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8335n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss7
Observed Complex0
Frequencyn/a


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