A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv16n206



Internal ID22755320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70949079..71006107hg38UCSC Ensembl
chr1:71414762..71471790hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3857029
hg1957029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5423144, nsv5429793
Samples
Known GenesPTGER3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv16n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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