A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449779



Internal ID228006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195368939..195370784hg38UCSC Ensembl
chr3:195089668..195091513hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381846
hg191846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16945963
Samples
Known GenesACAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449779
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