A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15817910



Internal ID19543310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110160095..110160459hg38UCSC Ensembl
chr13:110812442..110812806hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4228676
Supporting Variants
Samples
Known GenesCOL4A1
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)nssv15817910
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.138766


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