A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4033208



Internal ID19817343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30669086..30779528hg38UCSC Ensembl
chr1:31141933..31252375hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38110443
hg19110443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966166
Samples
Known GenesLAPTM5, MATN1, MATN1-AS1, MIR4420
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)nsv4033208
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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