A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4570505



Internal ID19953700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96927485..96927486hg38UCSC Ensembl
chr6:97375361..97375362hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16069536
Samples
Known GenesKLHL32
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)nsv4570505
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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