A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949371



Internal ID19674625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95990914..96016728hg38UCSC Ensembl
chr12:96384692..96410506hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3825815
hg1925815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4224009
Supporting Variants
Samples
Known GenesHAL, LTA4H
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)nssv15949371
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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