A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3299n100



Internal ID22789386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83017872..83091923hg38UCSC Ensembl
chr17:80975748..81049725hg19UCSC Ensembl
chr17:78569037..78643088hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3874052
hg1973978
hg1874052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061665, nsv1062646
Samples
Known GenesB3GNTL1, METRNL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3299n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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