A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047543



Internal ID20174065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:112117181..112117413hg38UCSC Ensembl
chrX:111360409..111360641hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15988737
Samples
Known GenesZCCHC16
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)nsv4047543
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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