A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453509



Internal ID231630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179008390..179017321hg38UCSC Ensembl
chr2:179873117..179882048hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg388932
hg198932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921194
Samples
Known GenesCCDC141
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453509
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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