A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15846713



Internal ID19572094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220542267..220548888hg38UCSC Ensembl
chr1:220715609..220722230hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg386622
hg196622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4065793
Supporting Variants
Samples
Known GenesMARK1
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)nssv15846713
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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