A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4247681



Internal ID20095940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:65008565..65044765hg38UCSC Ensembl
chr15:65300903..65337103hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3836201
hg1936201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15825442
Samples
Known GenesMTFMT
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)nsv4247681
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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