A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983246



Internal ID19708500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:151900086..152298709hg38UCSC Ensembl
chr7:151597171..151995794hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38398624
hg19398624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4153669
Supporting Variants
Samples
Known GenesGALNT11, GALNTL5, KMT2C
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)nssv15983246
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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