A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4516186



Internal ID20246305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120814501..120842141hg38UCSC Ensembl
chr1:148003000..148026000hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3827641
hg1923001
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15781156, nssv15781158, nssv15781144, nssv15781157, nssv15781133, nssv15781159, nssv15781129, nssv15781148, nssv15781131, nssv15781143, nssv15781132, nssv15781137, nssv15781154, nssv15781138, nssv15781127, nssv15781149, nssv15781140, nssv15781147, nssv15781155, nssv15781126, nssv15781141, nssv15781134, nssv15781128, nssv15781135, nssv15781153, nssv15781151, nssv15781130, nssv15781152, nssv15781145, nssv15781150, nssv15781146, nssv15781139, nssv15781142, nssv15781136
Samples
Known GenesNBPF8
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)nsv4516186
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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