A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4460454



Internal ID20190367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210397114..210397115hg38UCSC Ensembl
chr1:210570458..210570459hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16029813
Samples
Known GenesHHAT
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)nsv4460454
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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