A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980805



Internal ID19706059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19093351..20585299hg38UCSC Ensembl
chr7:19132974..20624922hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg381491949
hg191491949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4139828
Supporting Variants
Samples
Known GenesFERD3L, ITGB8, MACC1, MACC1-AS1, MIR3146, TMEM196, TWIST1, TWISTNB
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)nssv15980805
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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