A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4072310



Internal ID20316583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217602013..217745627hg38UCSC Ensembl
chr1:217775355..217918969hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38143615
hg19143615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15848971
Samples
Known GenesGPATCH2, SPATA17
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)nsv4072310
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer