A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15867747



Internal ID19939687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74235563..74238831hg38UCSC Ensembl
chr2:74462690..74465958hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg383269
hg193269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4059230
Supporting Variants
Samples
Known GenesSLC4A5
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)nssv15867747
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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