A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15931075



Internal ID20003015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72244011..72260664hg38UCSC Ensembl
chr8:73156246..73172899hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3816654
hg1916654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4162558
Supporting Variants
Samples
Known GenesLOC392232
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)nssv15931075
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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