A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5978n100



Internal ID19016346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57946158..58060451hg38UCSC Ensembl
chr6:58272436..58386729hg19UCSC Ensembl
chr6:58380395..58494688hg18UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg38114294
hg19114294
hg18114294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1029561, nsv1022863, nsv1019797
Samples
Known GenesGUSBP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5978n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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