A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4043740



Internal ID19824746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:60001..94600hg38UCSC Ensembl
chr19:60000..94600hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3834600
hg1934601
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15780382, nssv15780384, nssv15780387, nssv15780381, nssv15780388, nssv15780386, nssv15780389, nssv15780385, nssv15780383
Samples
Known GenesFAM138A, FAM138F, WASH5P
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)nsv4043740
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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