A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv514n223



Internal ID22803482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206052601..206060300hg38UCSC Ensembl
chr1:206281071..206288769hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg387700
hg197699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6332487, nsv6335046, nsv6333115
Samples
Known GenesC1orf186
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv514n223
Frequency
Sample Size19652
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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