A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5426n100



Internal ID22791513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143965588..144062086hg38UCSC Ensembl
chr4:144886741..144983239hg19UCSC Ensembl
chr4:145106191..145202689hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3896499
hg1996499
hg1896499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017898, nsv1031486
Samples
Known GenesGYPB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5426n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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