A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4045746



Internal ID19826156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120463498..120463957hg38UCSC Ensembl
chrX:119597353..119597812hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15946982
Samples
Known GenesLAMP2
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)nsv4045746
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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