A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15822629



Internal ID19894715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96059518..96064561hg38UCSC Ensembl
chr14:96525855..96530898hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg385044
hg195044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4221991
Supporting Variants
Samples
Known GenesC14orf132
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)nssv15822629
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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