A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4572974



Internal ID19956163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26012785..26023140hg38UCSC Ensembl
chr6:26013013..26023368hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3810356
hg1910356
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790753
Samples
Known GenesHIST1H1A, HIST1H3A, HIST1H4A
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4572974
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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