A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4159099



Internal ID20379687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149554335..149554865hg38UCSC Ensembl
chr7:149251426..149251956hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15925467
Samples
Known GenesZNF767
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)nsv4159099
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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