A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449187



Internal ID227431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211770283..211770339hg38UCSC Ensembl
chr1:211943625..211943681hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895079
Samples
Known GenesLPGAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449187
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