A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15899708



Internal ID19624962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55024640..55028149hg38UCSC Ensembl
chr5:54320468..54323977hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383510
hg193510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4118102
Supporting Variants
Samples
Known GenesGZMK
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)nssv15899708
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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