A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15913387



Internal ID19985327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107081345..107089755hg38UCSC Ensembl
chr6:107402549..107410959hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg388411
hg198411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4144969
Supporting Variants
Samples
Known GenesBEND3
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)nssv15913387
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000049


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