A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4053737



Internal ID20178407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107574364..107575017hg38UCSC Ensembl
chr1:108116986..108117639hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15854098
Samples
Known GenesVAV3
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)nsv4053737
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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