A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4043991



Internal ID19824924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154704397..154707200hg38UCSC Ensembl
chrX:153932672..153935475hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg382804
hg192804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949283
Samples
Known GenesGAB3
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 ID12345678
Accession Number(s)nsv4043991
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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