A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv574n100



Internal ID20152190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214590435..214840032hg38UCSC Ensembl
chr1:214763778..215013375hg19UCSC Ensembl
chr1:212830401..213079998hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38249598
hg19249598
hg18249598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997864, nsv1005669, nsv1004475, nsv1002937
Samples
Known GenesCENPF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv574n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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