A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039748



Internal ID19821967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110363072..110363216hg38UCSC Ensembl
chrX:109606300..109606444hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15946311
Samples
Known GenesAMMECR1
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)nsv4039748
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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