A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4041018



Internal ID20169496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:54767072..54769945hg38UCSC Ensembl
chrX:54793505..54796378hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382874
hg192874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15944752
Samples
Known GenesITIH6
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)nsv4041018
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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