A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973871



Internal ID20045811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113879078..113939541hg38UCSC Ensembl
chr3:113597925..113658388hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3860464
hg1960464
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4087830
Supporting Variants
Samples
Known GenesGRAMD1C
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)nssv15973871
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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