A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15850250



Internal ID19575564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38868686..38869898hg38UCSC Ensembl
chr1:39334358..39335570hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4517001
Supporting Variants
Samples
Known GenesGJA9-MYCBP, MYCBP
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)nssv15850250
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000461


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