A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15848915



Internal ID19574259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25884466..25897037hg38UCSC Ensembl
chr1:26210957..26223528hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3812572
hg1912572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4033487
Supporting Variants
Samples
Known GenesSTMN1
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)nssv15848915
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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