A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4574677



Internal ID19957866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64957230..64957231hg38UCSC Ensembl
chr14:65423948..65423949hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38770
hg19770
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16010335
Samples
Known GenesCHURC1-FNTB, RAB15
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)nsv4574677
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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