A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4263213



Internal ID20106647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50982421..51007783hg38UCSC Ensembl
chr19:51485677..51511039hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3825363
hg1925363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15845522
Samples
Known GenesKLK7, KLK8, KLK9
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 ID12345678
Accession Number(s)nsv4263213
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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