A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4161974



Internal ID20035086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91212344..91225184hg38UCSC Ensembl
chr8:92224572..92237412hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3812841
hg1912841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15932548
Samples
Known GenesLRRC69, SLC26A7
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)nsv4161974
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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