A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4127346



Internal ID20356785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2363551..2367702hg38UCSC Ensembl
chr6:2363785..2367936hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg384152
hg194152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15908191
Samples
Known GenesGMDS-AS1
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 ID32461652
Accession Number(s)nsv4127346
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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