A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2897n166



Internal ID22802796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73548018..73548458hg38UCSC Ensembl
chrX:72767854..72768294hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4039990, nsv4042551
Samples
Known GenesMAP2K4P1
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)dgv2897n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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