A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15924555



Internal ID19996495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139448953..139458456hg38UCSC Ensembl
chr7:139133699..139143202hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg389504
hg199504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4157310
Supporting Variants
Samples
Known GenesKLRG2
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)nssv15924555
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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