A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4151n223



Internal ID22807119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148321090..148401456hg38UCSC Ensembl
chr2:149078659..149159025hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3880367
hg1980367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6353091, nsv6339561
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4151n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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