A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15856147



Internal ID19581401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108867178..108915378hg38UCSC Ensembl
chr1:109409800..109458000hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3848201
hg1948201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4071243
Supporting Variants
Samples
Known GenesGPSM2
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)nssv15856147
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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