A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4141669



Internal ID20020377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42915290..42917398hg38UCSC Ensembl
chr7:42954889..42956997hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382109
hg192109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15917956
Samples
Known GenesPSMA2
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)nsv4141669
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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