A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4042152



Internal ID19823625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154951525..155321738hg38UCSC Ensembl
chrX:154179800..154551050hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38370214
hg19371251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949296
Samples
Known GenesBRCC3, CLIC2, CMC4, F8, FUNDC2, MTCP1, RAB39B, VBP1
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)nsv4042152
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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