A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4164687



Internal ID20037054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158644451..159005913hg38UCSC Ensembl
chr7:158437143..158798604hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38361463
hg19361462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15983002
Samples
Known GenesESYT2, NCAPG2, WDR60
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)nsv4164687
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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