A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15890875



Internal ID19616129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47871982..48663983hg38UCSC Ensembl
chr4:47873999..48666000hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38792002
hg19792002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4521145
Supporting Variants
Samples
Known GenesCNGA1, FRYL, NFXL1, NIPAL1, SLAIN2, SLC10A4, TEC, TXK, ZAR1
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)nssv15890875
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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