A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4279174



Internal ID20462721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30545881..30576881hg38UCSC Ensembl
chr21:31918200..31949200hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3831001
hg1931001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15861566
Samples
Known GenesKRTAP19-7
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)nsv4279174
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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