A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4147974



Internal ID20024945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39586177..39590865hg38UCSC Ensembl
chr7:39625776..39630464hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg384689
hg194689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15919763
Samples
Known GenesYAE1D1
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)nsv4147974
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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