A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15845244



Internal ID19917330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57261635..57267005hg38UCSC Ensembl
chr19:57773003..57778373hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg385371
hg195371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4272334
Supporting Variants
Samples
Known GenesZNF805
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)nssv15845244
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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