A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15868028



Internal ID19939968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48987043..49165083hg38UCSC Ensembl
chr2:49214182..49392222hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38178041
hg19178041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4054045
Supporting Variants
Samples
Known GenesFSHR
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)nssv15868028
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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