A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15834388



Internal ID19559788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40835778..40911456hg38UCSC Ensembl
chr17:38992030..39067708hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3875679
hg1975679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4262659
Supporting Variants
Samples
Known GenesKRT12, KRT20, TMEM99
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)nssv15834388
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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