A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980829



Internal ID20052769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30392694..30393168hg38UCSC Ensembl
chr7:30432310..30432784hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4151625
Supporting Variants
Samples
Known GenesLOC100506516
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)nssv15980829
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000187


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