A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980696



Internal ID19705950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6799364..7094705hg38UCSC Ensembl
chr7:6838995..7134336hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38295342
hg19295342
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4137303
Supporting Variants
Samples
Known GenesCCZ1B, LOC100131257
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)nssv15980696
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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