A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv173n100



Internal ID20151789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65102651..65215491hg38UCSC Ensembl
chr1:65568334..65681174hg19UCSC Ensembl
chr1:65340922..65453762hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38112841
hg19112841
hg18112841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004513, nsv1009166
Samples
Known GenesAK4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv173n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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