A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3178n100



Internal ID20154794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45877004..46034461hg38UCSC Ensembl
chr17:43954370..44111827hg19UCSC Ensembl
chr17:41310161..41467674hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38157458
hg19157458
hg18157514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058704, nsv1065685
Samples
Known GenesKANSL1, MAPT, MAPT-AS1, MAPT-IT1, STH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3178n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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