A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4175179



Internal ID20391351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:74879992..74885502hg38UCSC Ensembl
chr9:77494908..77500418hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg385511
hg195511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15936098
Samples
Known GenesTRPM6
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)nsv4175179
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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