A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5417n100



Internal ID22791504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143857751..144080924hg38UCSC Ensembl
chr4:144778904..145002077hg19UCSC Ensembl
chr4:144998354..145221527hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38223174
hg19223174
hg18223174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016103, nsv1033586, nsv1029367
Samples
Known GenesGYPB, GYPE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5417n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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