A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15981230



Internal ID19706484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49646011..50390022hg38UCSC Ensembl
chr7:49685607..50457720hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg38744012
hg19772114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4141466
Supporting Variants
Samples
Known GenesC7orf72, IKZF1, VWC2, ZPBP
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)nssv15981230
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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