A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4244427



Internal ID20440443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30608062..30649709hg38UCSC Ensembl
chr17:28935080..28976727hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3841648
hg1941648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15832446
Samples
Known GenesLRRC37BP1, SH3GL1P2
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)nsv4244427
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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