A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4077200



Internal ID20320191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51984260..51987800hg38UCSC Ensembl
chr3:52018276..52021816hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg383541
hg193541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15877889
Samples
Known GenesABHD14A-ACY1, ACY1
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4077200
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer