A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4530970



Internal ID19914400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:100925794..101439445hg38UCSC Ensembl
chr15:101465999..101979650hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38513652
hg19513652
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953959
Samples
Known GenesCHSY1, LOC100507472, LRRK1, PCSK6, SNRPA1, VIMP
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)nsv4530970
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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