A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15925421



Internal ID19650675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:154920633..154928610hg38UCSC Ensembl
chr7:154712343..154720320hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg387978
hg197978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4159909
Supporting Variants
Samples
Known GenesPAXIP1-AS2
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)nssv15925421
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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