A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4048253



Internal ID20174551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:8626959..8678959hg38UCSC Ensembl
chrX:8595000..8647000hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3852001
hg1952001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987095
Samples
Known GenesKAL1
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)nsv4048253
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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