A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv472n100



Internal ID20152088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179745112..179830295hg38UCSC Ensembl
chr1:179714247..179799430hg19UCSC Ensembl
chr1:177980870..178066053hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3885184
hg1985184
hg1885184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011407, nsv1009961
Samples
Known GenesFAM163A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv472n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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