A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv583n223



Internal ID22803551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247688201..247888200hg38UCSC Ensembl
chr1:247851503..248051502hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38200000
hg19200000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6323484, nsv6330158, nsv6327396
Samples
Known GenesOR11L1, OR14A16, OR1C1, OR6F1, TRIM58
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv583n223
Frequency
Sample Size19652
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer