A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4074801



Internal ID20318420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124250785..124252351hg38UCSC Ensembl
chr3:123969632..123971198hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg381567
hg191567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15885499
Samples
Known GenesKALRN
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 ID32461652
Accession Number(s)nsv4074801
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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