A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4123602



Internal ID20007414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6624389..6642598hg38UCSC Ensembl
chr5:6624502..6642711hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3818210
hg1918210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15899172
Samples
Known GenesNSUN2, SRD5A1
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)nsv4123602
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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