A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15869188



Internal ID19594442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110629422..112363423hg38UCSC Ensembl
chr2:111386999..113121000hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381734002
hg191734002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4518580
Supporting Variants
Samples
Known GenesACOXL, ANAPC1, BCL2L11, BUB1, FBLN7, MERTK, MIR4435-1, MIR4435-1HG, MIR4435-2, TMEM87B, ZC3H6, ZC3H8
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)nssv15869188
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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