A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4080242



Internal ID20322431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237537914..237539571hg38UCSC Ensembl
chr2:238446557..238448214hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381658
hg191658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15875523
Samples
Known GenesMLPH
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)nsv4080242
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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