A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4559943



Internal ID19943140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127902928..127902929hg38UCSC Ensembl
chr9:130665207..130665208hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16088188
Samples
Known GenesST6GALNAC6
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)nsv4559943
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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