A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4169766



Internal ID20387482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108383776..108443514hg38UCSC Ensembl
chr7:108024220..108083958hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3859739
hg1959739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15924015
Samples
Known GenesNRCAM
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)nsv4169766
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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