A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15856617



Internal ID19928558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161559469..161641133hg38UCSC Ensembl
chr1:161529259..161610923hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3881665
hg1981665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4061751
Supporting Variants
Samples
Known GenesFCGR2C, FCGR3B, HSPA7
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)nssv15856617
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.080359


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