A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15875043



Internal ID19600297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201651817..201662330hg38UCSC Ensembl
chr2:202516540..202527053hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3810514
hg1910514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4076890
Supporting Variants
Samples
Known GenesMPP4
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)nssv15875043
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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