A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035394



Internal ID20165582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:232333..246333hg38UCSC Ensembl
chrX:149000..163000hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15786019, nssv15786010, nssv15786017, nssv15786014, nssv15786013, nssv15786012, nssv15786018, nssv15786011, nssv15786015, nssv15786020, nssv15786016
Samples
Known Genes
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)nsv4035394
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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