A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788456



Internal ID19513810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6443872..6444710hg38UCSC Ensembl
chr17:6347192..6348030hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38839
hg19839
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557669
Supporting Variants
Samples
Known GenesFAM64A
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15788456
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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