A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4573912



Internal ID20303787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:36065460..36065461hg38UCSC Ensembl
chrX:36083577..36083578hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16088746
Samples
Known GenesCHDC2
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)nsv4573912
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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