A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4147363



Internal ID20371170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88517053..90538991hg38UCSC Ensembl
chr7:88146368..90168305hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg382021939
hg192021938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2394n166
Supporting Variantsnssv15981155
Samples
Known GenesC7orf62, C7orf63, CLDN12, DPY19L2P4, GTPBP10, LOC101409256, STEAP1, STEAP2, ZNF804B
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)nsv4147363
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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