A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039740



Internal ID20168618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:123350..140100hg38UCSC Ensembl
chr1:123350..140100hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3816751
hg1916751
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15780937, nssv15780941, nssv15780936, nssv15780939, nssv15780935, nssv15780940, nssv15780938
Samples
Known GenesLOC729737
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)nsv4039740
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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