A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4544952



Internal ID19928141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135846053..135846054hg38UCSC Ensembl
chr2:136603623..136603624hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38783
hg19783
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16038245
Samples
Known GenesMCM6
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)nsv4544952
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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