A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15853653



Internal ID19578907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117162085..117180441hg38UCSC Ensembl
chr1:117704707..117723063hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3818357
hg1918357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4069103
Supporting Variants
Samples
Known GenesVTCN1
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)nssv15853653
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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