A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035540



Internal ID20165686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156657705..156666885hg38UCSC Ensembl
chr5:156084716..156093896hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg389181
hg199181
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15783092, nssv15783096, nssv15783098, nssv15783094, nssv15783091, nssv15783095, nssv15783093, nssv15783097
Samples
Known GenesSGCD
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)nsv4035540
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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