A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16001725



Internal ID19726979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49100926..49100927hg38UCSC Ensembl
chr12:49494709..49494710hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4548532
Supporting Variants
Samples
Known GenesLMBR1L
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)nssv16001725
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004979


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