A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4075732



Internal ID20319101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119624022..119642205hg38UCSC Ensembl
chr2:120381598..120399781hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3818184
hg1918184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15869307
Samples
Known GenesPCDP1
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)nsv4075732
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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