A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv556n223



Internal ID22803524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234680601..234835000hg38UCSC Ensembl
chr1:234816347..234970747hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38154400
hg19154401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6320559, nsv6323480, nsv6319009, nsv6317727, nsv6321323
Samples
Known GenesLINC01132
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv556n223
Frequency
Sample Size19652
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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