A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4114997



Internal ID20001401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62315612..62625581hg38UCSC Ensembl
chr5:61611439..61921408hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38309970
hg19309970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976776
Samples
Known GenesDIMT1, IPO11, IPO11-LRRC70, KIF2A, LRRC70
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)nsv4114997
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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