A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15932831



Internal ID19658085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98264771..98739772hg38UCSC Ensembl
chr8:99276999..99752000hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38475002
hg19475002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4526811
Supporting Variants
Samples
Known GenesKCNS2, NIPAL2, STK3
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)nssv15932831
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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