A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4041895



Internal ID20170097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:149920682..149925932hg38UCSC Ensembl
chrX:149088900..149094150hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg385251
hg195251
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15786562, nssv15786561, nssv15786565, nssv15786564, nssv15786563, nssv15786560, nssv15786559, nssv15786558
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)nsv4041895
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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