A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5433n100



Internal ID20157049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144038174..144111731hg38UCSC Ensembl
chr4:144959327..145032884hg19UCSC Ensembl
chr4:145178777..145252334hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3873558
hg1973558
hg1873558
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018585, nsv1033612
Samples
Known GenesGYPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5433n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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