A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15845532



Internal ID19570932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51134203..51183372hg38UCSC Ensembl
chr19:51637460..51686628hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3849170
hg1949169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4271766
Supporting Variants
Samples
Known GenesSIGLEC17P, SIGLEC7, SIGLEC9
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)nssv15845532
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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