A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439899



Internal ID218425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114415694..114417351hg38UCSC Ensembl
chr2:115173271..115174928hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg381658
hg191658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919750
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439899
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