A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4502595



Internal ID19885976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61710560..61710561hg38UCSC Ensembl
chr14:62177278..62177279hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16007707
Samples
Known GenesHIF1A
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)nsv4502595
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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