A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv601n100



Internal ID20152217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243494646..243515087hg38UCSC Ensembl
chr1:243657948..243678389hg19UCSC Ensembl
chr1:241724571..241745012hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3820442
hg1920442
hg1820442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009968, nsv1006961
Samples
Known GenesAKT3, SDCCAG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv601n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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