A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4553950



Internal ID19937139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56156749..56156750hg38UCSC Ensembl
chr12:56550533..56550534hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16000998
Samples
Known GenesMYL6B
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)nsv4553950
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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