A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv509n223



Internal ID22803477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200024401..200051200hg38UCSC Ensembl
chr1:199993529..200020328hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3826800
hg1926800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6327685, nsv6329958
Samples
Known GenesNR5A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv509n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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