A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15877571



Internal ID19949511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230311285..230401285hg38UCSC Ensembl
chr2:231176000..231266000hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3890001
hg1990001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4074282
Supporting Variants
Samples
Known GenesSP140, SP140L
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)nssv15877571
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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