A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4572277



Internal ID19955467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161885500..161885501hg38UCSC Ensembl
chr5:161312506..161312507hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg383715
hg193715
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16065114
Samples
Known GenesGABRA1
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)nsv4572277
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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