A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4041014



Internal ID19822839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100657616..100660612hg38UCSC Ensembl
chrX:99912613..99915609hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg382997
hg192997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15946181
Samples
Known GenesSRPX2
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)nsv4041014
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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