A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16063657



Internal ID20135613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119458830..119458831hg38UCSC Ensembl
chr5:118794525..118794526hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4546074
Supporting Variants
Samples
Known GenesHSD17B4
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)nssv16063657
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00166


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