A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436251



Internal ID214871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16571318..16573172hg38UCSC Ensembl
chr2:16752586..16754440hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg381855
hg191855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909200
Samples
Known GenesFAM49A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436251
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