A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4069923



Internal ID19968157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31200944..31246417hg38UCSC Ensembl
chr2:31423810..31469283hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3845474
hg1945474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15868212
Samples
Known GenesCAPN14, EHD3
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 ID12345678
Accession Number(s)nsv4069923
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