A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15906301



Internal ID19631555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156931584..156932030hg38UCSC Ensembl
chr5:156358595..156359041hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4523261
Supporting Variants
Samples
Known GenesTIMD4
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)nssv15906301
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.027522


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