A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4569451



Internal ID20299332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73125904..73127140hg38UCSC Ensembl
chrX:72345743..72346979hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg381237
hg191237
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791761
Samples
Known GenesNAP1L6
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4569451
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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