A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4265215



Internal ID20108041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44822632..44846632hg38UCSC Ensembl
chr17:42900000..42924000hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3824001
hg1924001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959531
Samples
Known GenesGJC1, HIGD1B
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)nsv4265215
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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