A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15796320



Internal ID19868406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79613244..79794244hg38UCSC Ensembl
chr10:81373000..81554000hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38181001
hg19181001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4191920
Supporting Variants
Samples
Known GenesBEND3P3, NUTM2B, SFTPA1
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)nssv15796320
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000051


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