A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15780251



Internal ID19852227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64889882..64901882hg38UCSC Ensembl
chr17:62886000..62898000hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050404
Supporting Variants
Samples
Known GenesLRRC37A3
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 ID32461652
Accession Number(s)nssv15780251
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.39882


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