A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976903



Internal ID19702157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71353171..71889173hg38UCSC Ensembl
chr5:70648998..71185000hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38536003
hg19536003
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4521978
Supporting Variants
Samples
Known GenesBDP1, CARTPT, MCCC2, PMCHL2
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)nssv15976903
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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