A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv146n97



Internal ID22815543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50341374..50445854hg38UCSC Ensembl
chr18:47867744..47972224hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38104481
hg19104481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1155516, nsv1155515
Samples
Known GenesSKA1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)dgv146n97
Frequency
Sample Size131
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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