A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979347



Internal ID20051287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70301539..70489554hg38UCSC Ensembl
chr6:71011242..71199257hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38188016
hg19188016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4145545
Supporting Variants
Samples
Known GenesCOL9A1, FAM135A
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)nssv15979347
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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