A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4082673



Internal ID20324215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233643936..234585630hg38UCSC Ensembl
chr2:234552582..235494274hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38941695
hg19941693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15876176
Samples
Known GenesARL4C, DNAJB3, HJURP, LOC100286922, MSL3P1, SPP2, TRPM8, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
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)nsv4082673
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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