A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15876176



Internal ID19601430
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 StatusS
Merged Variantsnsv4082673
Supporting Variants
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 ID12345678
Accession Number(s)nssv15876176
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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