A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4055350



Internal ID19832990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202158252..202272267hg38UCSC Ensembl
chr1:202127380..202241395hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38114016
hg19114016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964070
Samples
Known GenesLGR6, PTPN7, PTPRVP
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)nsv4055350
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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