A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3292n100



Internal ID20154908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81019582..81204920hg38UCSC Ensembl
chr17:78993382..79178720hg19UCSC Ensembl
chr17:76607977..76793315hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38185339
hg19185339
hg18185339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066560, nsv1061939
Samples
Known GenesAATK, AATK-AS1, AZI1, BAIAP2, BAIAP2-AS1, MIR1250, MIR3065, MIR338, MIR657
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3292n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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