A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv488n223



Internal ID22803456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193777501..193907700hg38UCSC Ensembl
chr1:193746631..193876830hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38130200
hg19130200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6316581, nsv6332117
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv488n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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