A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4040017



Internal ID19822146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:819814..867357hg38UCSC Ensembl
chrX:780549..828092hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3847544
hg1947544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2831n166
Supporting Variantsnssv15939940
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 ID12345678
Accession Number(s)nsv4040017
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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