A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962712



Internal ID19687966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156056254..156060873hg38UCSC Ensembl
chr1:156026045..156030664hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg384620
hg194620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4053314
Supporting Variants
Samples
Known GenesLAMTOR2, MIR7851
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)nssv15962712
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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