A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15981910



Internal ID19707164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99962421..100028327hg38UCSC Ensembl
chr7:99560044..99625950hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3865907
hg1965907
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4165155
Supporting Variants
Samples
Known GenesAZGP1, AZGP1P1, ZKSCAN1
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)nssv15981910
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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