A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15834470



Internal ID19559870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42181433..42192524hg38UCSC Ensembl
chr17:40333451..40344542hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3811092
hg1911092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4271933
Supporting Variants
Samples
Known GenesGHDC, HCRT
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)nssv15834470
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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