A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439431



Internal ID217968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158353038..158361674hg38UCSC Ensembl
chr2:159209550..159218186hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg388637
hg198637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv287n206
Supporting Variantsnssv16921667
Samples
Known GenesCCDC148
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439431
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