A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15846714



Internal ID19572095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220556969..220562081hg38UCSC Ensembl
chr1:220730311..220735423hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385113
hg195113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4055277
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)nssv15846714
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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