A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4848n100



Internal ID22790935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125679579..125910985hg38UCSC Ensembl
chr3:125398423..125629828hg19UCSC Ensembl
chr3:126881113..127112518hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38231407
hg19231406
hg18231406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009798, nsv1001630, nsv1007454, nsv1004973, nsv1004261
Samples
Known GenesMIR548I1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4848n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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