A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4132442



Internal ID20013664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27806597..27814680hg38UCSC Ensembl
chr6:27774375..27782458hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg388084
hg198084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15910466
Samples
Known GenesHIST1H2AI, HIST1H2AJ, HIST1H2BL, HIST1H3H
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)nsv4132442
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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