A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4132627



Internal ID20360484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:67144773..67540918hg38UCSC Ensembl
chr7:66609760..67005905hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38396146
hg19396146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980940
Samples
Known GenesLOC101929736, PMS2P4, STAG3L4, TYW1
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)nsv4132627
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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