A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15873831



Internal ID19945771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179490478..179496759hg38UCSC Ensembl
chr2:180355205..180361486hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386282
hg196282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4083665
Supporting Variants
Samples
Known GenesZNF385B
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)nssv15873831
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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