A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4124165



Internal ID20007819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118936564..119033588hg38UCSC Ensembl
chr5:118272259..118369283hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3897025
hg1997025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2051n166
Supporting Variantsnssv15905241
Samples
Known GenesDTWD2, MIR1244-1, MIR1244-2, MIR1244-3
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)nsv4124165
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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