A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15900621



Internal ID19625875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87314022..87326504hg38UCSC Ensembl
chr5:86609839..86622321hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3812483
hg1912483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4123133
Supporting Variants
Samples
Known GenesRASA1
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)nssv15900621
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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