A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15904511



Internal ID19629765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102764340..103124698hg38UCSC Ensembl
chr5:102100044..102460402hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38360359
hg19360359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4124214
Supporting Variants
Samples
Known GenesGIN1, PAM, PPIP5K2
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)nssv15904511
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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