A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15910469



Internal ID19635723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27828961..27841298hg38UCSC Ensembl
chr6:27796739..27809076hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3812338
hg1912338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4120990
Supporting Variants
Samples
Known GenesHIST1H2AK, HIST1H2BN, HIST1H4K
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)nssv15910469
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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