A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980585



Internal ID19705839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71561073..71822380hg38UCSC Ensembl
chr7:71026058..71287365hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38261308
hg19261308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4149639
Supporting Variants
Samples
Known GenesCALN1, WBSCR17
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)nssv15980585
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000461


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