A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16023037



Internal ID20094993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53935450..53935451hg38UCSC Ensembl
chr1:54401123..54401124hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4534598
Supporting Variants
Samples
Known GenesHSPB11
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)nssv16023037
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006038


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