A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4257584



Internal ID20449398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75515499..75718079hg38UCSC Ensembl
chr17:73511580..73714159hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38202581
hg19202580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958320
Samples
Known GenesCASKIN2, LLGL2, MYO15B, RECQL5, SAP30BP, SMIM5, SMIM6, TSEN54
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 ID32461652
Accession Number(s)nsv4257584
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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