A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15924567



Internal ID19996507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139800223..139808901hg38UCSC Ensembl
chr7:139500022..139508700hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg388679
hg198679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4154172
Supporting Variants
Samples
Known GenesTBXAS1
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)nssv15924567
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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