A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5430n100



Internal ID20157046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143999095..144144371hg38UCSC Ensembl
chr4:144920248..145065524hg19UCSC Ensembl
chr4:145139698..145284974hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38145277
hg19145277
hg18145277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021155, nsv1030342, nsv1034728
Samples
Known GenesGYPA, GYPB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5430n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer