A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15832247



Internal ID19557647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89912591..90095092hg38UCSC Ensembl
chr16:89978999..90161500hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38182502
hg19182502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4531834
Supporting Variants
Samples
Known GenesAFG3L1P, C16orf3, CENPBD1, DBNDD1, DEF8, GAS8, MC1R, PRDM7, TUBB3, URAHP
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)nssv15832247
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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