A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15958792



Internal ID20030732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30605227..30745894hg38UCSC Ensembl
chr17:28932245..29072912hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38140668
hg19140668
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4235395
Supporting Variants
Samples
Known GenesLRRC37BP1, SH3GL1P2, SUZ12P1
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)nssv15958792
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000369


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