A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980026



Internal ID19705280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47628735..47865771hg38UCSC Ensembl
chr7:47668333..47905369hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38237037
hg19237037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4524313
Supporting Variants
Samples
Known GenesC7orf65, C7orf69, LINC00525, LOC101929086, PKD1L1
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)nssv15980026
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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