A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15832198



Internal ID19557598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89630156..89815079hg38UCSC Ensembl
chr16:89696564..89881487hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38184924
hg19184924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4248814
Supporting Variants
Samples
Known GenesCDK10, CHMP1A, DPEP1, FANCA, SPATA2L, SPATA33, VPS9D1, VPS9D1-AS1, ZNF276
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)nssv15832198
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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