A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv287n206



Internal ID22755591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158350697..158361674hg38UCSC Ensembl
chr2:159207209..159218186hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3810978
hg1910978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5453865, nsv5439431
Samples
Known GenesCCDC148
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv287n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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