A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5789n54



Internal ID20139213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78577234..78599049hg38UCSC Ensembl
chr17:76573316..76595131hg19UCSC Ensembl
chr17:74084911..74106726hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3821816
hg1921816
hg1821816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv576100, nsv576099
Samples
Known GenesDNAH17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5789n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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