A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15811429



Internal ID19536829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123973304..123973883hg38UCSC Ensembl
chr12:124457851..124458430hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4215368
Supporting Variants
Samples
Known GenesZNF664, ZNF664-FAM101A
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)nssv15811429
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.053575


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