A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15920352



Internal ID19645606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75835413..75956893hg38UCSC Ensembl
chr7:75464731..75586211hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38121481
hg19121481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4134062
Supporting Variants
Samples
Known GenesMIR4651, POR, RHBDD2, SNORA14A
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)nssv15920352
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000146


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