A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4123774



Internal ID20007542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141332433..141342933hg38UCSC Ensembl
chr5:140712000..140722500hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810501
hg1910501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15904840
Samples
Known GenesPCDHGA1, PCDHGA2
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)nsv4123774
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