A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5421n100



Internal ID20157037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143889299..144129458hg38UCSC Ensembl
chr4:144810452..145050611hg19UCSC Ensembl
chr4:145029902..145270061hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38240160
hg19240160
hg18240160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030457, nsv1015484, nsv1030148
Samples
Known GenesGYPA, GYPB, GYPE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5421n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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