A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4088192



Internal ID19981583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230313549..230691241hg38UCSC Ensembl
chr2:231178264..231555956hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38377693
hg19377693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15969057
Samples
Known GenesLOC151475, SP100, SP140L
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)nsv4088192
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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